nsv516047
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:146,934
- 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: 780 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 780 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv516047 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 18,518,460 | 18,665,393 |
| nsv516047 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 18,518,569 | 18,665,502 |
| nsv516047 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 18,554,326 | 18,701,259 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv655389 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv658832 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv699673 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv679737 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv668218 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv665879 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv671155 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv673798 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv686649 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv690688 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv692267 | copy number gain | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv655389 | Remapped | Perfect | NC_000005.10:g.(?_ 18518460)_(1862437 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,518,460 | 18,624,372 |
| nssv658832 | Remapped | Perfect | NC_000005.10:g.(?_ 18518460)_(1862437 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,518,460 | 18,624,372 |
| nssv699673 | Remapped | Perfect | NC_000005.10:g.(?_ 18544350)_(1858679 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,544,350 | 18,586,798 |
| nssv679737 | Remapped | Perfect | NC_000005.10:g.(?_ 18601360)_(1866504 1_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,601,360 | 18,665,041 |
| nssv668218 | Remapped | Perfect | NC_000005.10:g.(?_ 18601360)_(1866539 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,601,360 | 18,665,393 |
| nssv665879 | Remapped | Perfect | NC_000005.10:g.(?_ 18605831)_(1866539 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,605,831 | 18,665,393 |
| nssv671155 | Remapped | Perfect | NC_000005.10:g.(?_ 18605831)_(1866539 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,605,831 | 18,665,393 |
| nssv673798 | Remapped | Perfect | NC_000005.10:g.(?_ 18605831)_(1866539 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,605,831 | 18,665,393 |
| nssv686649 | Remapped | Perfect | NC_000005.10:g.(?_ 18605831)_(1866539 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,605,831 | 18,665,393 |
| nssv690688 | Remapped | Perfect | NC_000005.10:g.(?_ 18605831)_(1866539 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,605,831 | 18,665,393 |
| nssv692267 | Remapped | Perfect | NC_000005.10:g.(?_ 18605831)_(1866539 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 18,605,831 | 18,665,393 |
| nssv655389 | Remapped | Perfect | NC_000005.9:g.(?_1 8518569)_(18624481 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,518,569 | 18,624,481 |
| nssv658832 | Remapped | Perfect | NC_000005.9:g.(?_1 8518569)_(18624481 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,518,569 | 18,624,481 |
| nssv699673 | Remapped | Perfect | NC_000005.9:g.(?_1 8544459)_(18586907 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,544,459 | 18,586,907 |
| nssv679737 | Remapped | Perfect | NC_000005.9:g.(?_1 8601469)_(18665150 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,601,469 | 18,665,150 |
| nssv668218 | Remapped | Perfect | NC_000005.9:g.(?_1 8601469)_(18665502 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,601,469 | 18,665,502 |
| nssv665879 | Remapped | Perfect | NC_000005.9:g.(?_1 8605940)_(18665502 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,605,940 | 18,665,502 |
| nssv671155 | Remapped | Perfect | NC_000005.9:g.(?_1 8605940)_(18665502 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,605,940 | 18,665,502 |
| nssv673798 | Remapped | Perfect | NC_000005.9:g.(?_1 8605940)_(18665502 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,605,940 | 18,665,502 |
| nssv686649 | Remapped | Perfect | NC_000005.9:g.(?_1 8605940)_(18665502 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,605,940 | 18,665,502 |
| nssv690688 | Remapped | Perfect | NC_000005.9:g.(?_1 8605940)_(18665502 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,605,940 | 18,665,502 |
| nssv692267 | Remapped | Perfect | NC_000005.9:g.(?_1 8605940)_(18665502 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 18,605,940 | 18,665,502 |
| nssv655389 | Submitted genomic | NC_000005.8:g.(?_1 8554326)_(18660238 _?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,554,326 | 18,660,238 | ||
| nssv658832 | Submitted genomic | NC_000005.8:g.(?_1 8554326)_(18660238 _?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,554,326 | 18,660,238 | ||
| nssv699673 | Submitted genomic | NC_000005.8:g.(?_1 8580216)_(18622664 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,580,216 | 18,622,664 | ||
| nssv679737 | Submitted genomic | NC_000005.8:g.(?_1 8637226)_(18700907 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,637,226 | 18,700,907 | ||
| nssv668218 | Submitted genomic | NC_000005.8:g.(?_1 8637226)_(18701259 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,637,226 | 18,701,259 | ||
| nssv665879 | Submitted genomic | NC_000005.8:g.(?_1 8641697)_(18701259 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,641,697 | 18,701,259 | ||
| nssv671155 | Submitted genomic | NC_000005.8:g.(?_1 8641697)_(18701259 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,641,697 | 18,701,259 | ||
| nssv673798 | Submitted genomic | NC_000005.8:g.(?_1 8641697)_(18701259 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,641,697 | 18,701,259 | ||
| nssv686649 | Submitted genomic | NC_000005.8:g.(?_1 8641697)_(18701259 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,641,697 | 18,701,259 | ||
| nssv690688 | Submitted genomic | NC_000005.8:g.(?_1 8641697)_(18701259 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,641,697 | 18,701,259 | ||
| nssv692267 | Submitted genomic | NC_000005.8:g.(?_1 8641697)_(18701259 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 18,641,697 | 18,701,259 |