nsv517675
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:128,094
- Publication(s):Shaikh et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 863 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 863 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv517675 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 4,253,892 | 4,381,985 |
| nsv517675 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 4,293,524 | 4,421,616 |
| nsv517675 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 4,066,765 | 4,194,857 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv698108 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv705089 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv705908 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv670109 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv660423 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv671729 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv662287 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv652790 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv655575 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv659546 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv667162 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv668065 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv669204 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv671159 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv672337 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv673809 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv679744 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv684657 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv687462 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv690420 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv690745 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv691131 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv691403 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv692567 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv693175 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv698108 | Remapped | Perfect | NC_000007.14:g.(?_ 4253892)_(4254344_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,253,892 | 4,254,344 |
| nssv705089 | Remapped | Perfect | NC_000007.14:g.(?_ 4253892)_(4254344_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,253,892 | 4,254,344 |
| nssv705908 | Remapped | Perfect | NC_000007.14:g.(?_ 4253892)_(4258993_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,253,892 | 4,258,993 |
| nssv670109 | Remapped | Good | NC_000007.14:g.(?_ 4253892)_(4360112_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,253,892 | 4,360,112 |
| nssv660423 | Remapped | Good | NC_000007.14:g.(?_ 4253892)_(4363041_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,253,892 | 4,363,041 |
| nssv671729 | Remapped | Good | NC_000007.14:g.(?_ 4253892)_(4381985_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,253,892 | 4,381,985 |
| nssv662287 | Remapped | Good | NC_000007.14:g.(?_ 4254344)_(4361517_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,254,344 | 4,361,517 |
| nssv652790 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv655575 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv659546 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv667162 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv668065 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv669204 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv671159 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv672337 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv673809 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv679744 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv684657 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv687462 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv690420 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv690745 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv691131 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv691403 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv692567 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv693175 | Remapped | Perfect | NC_000007.14:g.(?_ 4379088)_(4379656_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 4,379,088 | 4,379,656 |
| nssv698108 | Remapped | Perfect | NC_000007.13:g.(?_ 4293524)_(4293976_ ?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,293,524 | 4,293,976 |
| nssv705089 | Remapped | Perfect | NC_000007.13:g.(?_ 4293524)_(4293976_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,293,524 | 4,293,976 |
| nssv705908 | Remapped | Perfect | NC_000007.13:g.(?_ 4293524)_(4298625_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,293,524 | 4,298,625 |
| nssv670109 | Remapped | Perfect | NC_000007.13:g.(?_ 4293524)_(4399743_ ?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,293,524 | 4,399,743 |
| nssv660423 | Remapped | Perfect | NC_000007.13:g.(?_ 4293524)_(4402672_ ?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,293,524 | 4,402,672 |
| nssv671729 | Remapped | Perfect | NC_000007.13:g.(?_ 4293524)_(4421616_ ?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,293,524 | 4,421,616 |
| nssv662287 | Remapped | Perfect | NC_000007.13:g.(?_ 4293976)_(4401148_ ?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,293,976 | 4,401,148 |
| nssv652790 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv655575 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv659546 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv667162 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv668065 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv669204 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv671159 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv672337 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv673809 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv679744 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv684657 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv687462 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv690420 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv690745 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv691131 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv691403 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv692567 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv693175 | Remapped | Perfect | NC_000007.13:g.(?_ 4418719)_(4419287_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 4,418,719 | 4,419,287 |
| nssv698108 | Submitted genomic | NC_000007.11:g.(?_ 4066765)_(4067217_ ?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,066,765 | 4,067,217 | ||
| nssv705089 | Submitted genomic | NC_000007.11:g.(?_ 4066765)_(4067217_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,066,765 | 4,067,217 | ||
| nssv705908 | Submitted genomic | NC_000007.11:g.(?_ 4066765)_(4071866_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,066,765 | 4,071,866 | ||
| nssv670109 | Submitted genomic | NC_000007.11:g.(?_ 4066765)_(4172984_ ?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,066,765 | 4,172,984 | ||
| nssv660423 | Submitted genomic | NC_000007.11:g.(?_ 4066765)_(4175913_ ?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,066,765 | 4,175,913 | ||
| nssv671729 | Submitted genomic | NC_000007.11:g.(?_ 4066765)_(4194857_ ?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,066,765 | 4,194,857 | ||
| nssv662287 | Submitted genomic | NC_000007.11:g.(?_ 4067217)_(4174389_ ?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,067,217 | 4,174,389 | ||
| nssv652790 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv655575 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv659546 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv667162 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv668065 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv669204 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv671159 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv672337 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv673809 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv679744 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv684657 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv687462 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv690420 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv690745 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv691131 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv691403 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv692567 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 | ||
| nssv693175 | Submitted genomic | NC_000007.11:g.(?_ 4191960)_(4192528_ ?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 4,191,960 | 4,192,528 |