nsv521195
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,320
- 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: 440 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv521195 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 23,073,970 | 23,117,289 |
| nsv521195 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 23,073,969 | 23,117,288 |
| nsv521195 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 23,063,969 | 23,107,288 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv705327 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv692503 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv691411 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv700519 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv684328 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv693990 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv705327 | Remapped | Perfect | NC_000009.12:g.(?_ 23073970)_(2308792 7_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 23,073,970 | 23,087,927 |
| nssv692503 | Remapped | Perfect | NC_000009.12:g.(?_ 23073970)_(2310508 2_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 23,073,970 | 23,105,082 |
| nssv691411 | Remapped | Perfect | NC_000009.12:g.(?_ 23073970)_(2311728 9_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 23,073,970 | 23,117,289 |
| nssv700519 | Remapped | Perfect | NC_000009.12:g.(?_ 23078403)_(2308130 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 23,078,403 | 23,081,307 |
| nssv684328 | Remapped | Perfect | NC_000009.12:g.(?_ 23078403)_(2308792 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 23,078,403 | 23,087,927 |
| nssv693990 | Remapped | Perfect | NC_000009.12:g.(?_ 23078403)_(2308792 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 23,078,403 | 23,087,927 |
| nssv705327 | Remapped | Perfect | NC_000009.11:g.(?_ 23073969)_(2308792 6_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 23,073,969 | 23,087,926 |
| nssv692503 | Remapped | Perfect | NC_000009.11:g.(?_ 23073969)_(2310508 1_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 23,073,969 | 23,105,081 |
| nssv691411 | Remapped | Perfect | NC_000009.11:g.(?_ 23073969)_(2311728 8_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 23,073,969 | 23,117,288 |
| nssv700519 | Remapped | Perfect | NC_000009.11:g.(?_ 23078402)_(2308130 6_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 23,078,402 | 23,081,306 |
| nssv684328 | Remapped | Perfect | NC_000009.11:g.(?_ 23078402)_(2308792 6_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 23,078,402 | 23,087,926 |
| nssv693990 | Remapped | Perfect | NC_000009.11:g.(?_ 23078402)_(2308792 6_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 23,078,402 | 23,087,926 |
| nssv705327 | Submitted genomic | NC_000009.9:g.(?_2 3063969)_(23077926 _?)dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 23,063,969 | 23,077,926 | ||
| nssv692503 | Submitted genomic | NC_000009.9:g.(?_2 3063969)_(23095081 _?)dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 23,063,969 | 23,095,081 | ||
| nssv691411 | Submitted genomic | NC_000009.9:g.(?_2 3063969)_(23107288 _?)dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 23,063,969 | 23,107,288 | ||
| nssv700519 | Submitted genomic | NC_000009.9:g.(?_2 3068402)_(23071306 _?)del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 23,068,402 | 23,071,306 | ||
| nssv684328 | Submitted genomic | NC_000009.9:g.(?_2 3068402)_(23077926 _?)del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 23,068,402 | 23,077,926 | ||
| nssv693990 | Submitted genomic | NC_000009.9:g.(?_2 3068402)_(23077926 _?)del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 23,068,402 | 23,077,926 |