nsv516425
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:99,328
- 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: 814 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 816 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv516425 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 2,690,980 | 2,790,307 |
| nsv516425 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 2,690,980 | 2,790,307 |
| nsv516425 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 2,680,980 | 2,780,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv668287 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv668433 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv694552 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv699054 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv700988 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv694398 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv657571 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv662583 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv674844 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv668287 | Remapped | Perfect | NC_000009.12:g.(?_ 2690980)_(2790307_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,690,980 | 2,790,307 |
| nssv668433 | Remapped | Perfect | NC_000009.12:g.(?_ 2691186)_(2790307_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,691,186 | 2,790,307 |
| nssv694552 | Remapped | Perfect | NC_000009.12:g.(?_ 2699004)_(2699606_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,699,004 | 2,699,606 |
| nssv699054 | Remapped | Perfect | NC_000009.12:g.(?_ 2699004)_(2699606_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,699,004 | 2,699,606 |
| nssv700988 | Remapped | Perfect | NC_000009.12:g.(?_ 2705874)_(2746548_ ?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,705,874 | 2,746,548 |
| nssv694398 | Remapped | Perfect | NC_000009.12:g.(?_ 2730988)_(2734038_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,730,988 | 2,734,038 |
| nssv657571 | Remapped | Perfect | NC_000009.12:g.(?_ 2731748)_(2734038_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,731,748 | 2,734,038 |
| nssv662583 | Remapped | Perfect | NC_000009.12:g.(?_ 2731748)_(2734038_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,731,748 | 2,734,038 |
| nssv674844 | Remapped | Perfect | NC_000009.12:g.(?_ 2731748)_(2734038_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 2,731,748 | 2,734,038 |
| nssv668287 | Remapped | Perfect | NC_000009.11:g.(?_ 2690980)_(2790307_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,690,980 | 2,790,307 |
| nssv668433 | Remapped | Perfect | NC_000009.11:g.(?_ 2691186)_(2790307_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,691,186 | 2,790,307 |
| nssv694552 | Remapped | Perfect | NC_000009.11:g.(?_ 2699004)_(2699606_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,699,004 | 2,699,606 |
| nssv699054 | Remapped | Perfect | NC_000009.11:g.(?_ 2699004)_(2699606_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,699,004 | 2,699,606 |
| nssv700988 | Remapped | Perfect | NC_000009.11:g.(?_ 2705874)_(2746548_ ?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,705,874 | 2,746,548 |
| nssv694398 | Remapped | Perfect | NC_000009.11:g.(?_ 2730988)_(2734038_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,730,988 | 2,734,038 |
| nssv657571 | Remapped | Perfect | NC_000009.11:g.(?_ 2731748)_(2734038_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,731,748 | 2,734,038 |
| nssv662583 | Remapped | Perfect | NC_000009.11:g.(?_ 2731748)_(2734038_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,731,748 | 2,734,038 |
| nssv674844 | Remapped | Perfect | NC_000009.11:g.(?_ 2731748)_(2734038_ ?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 2,731,748 | 2,734,038 |
| nssv668287 | Submitted genomic | NC_000009.9:g.(?_2 680980)_(2780307_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,680,980 | 2,780,307 | ||
| nssv668433 | Submitted genomic | NC_000009.9:g.(?_2 681186)_(2780307_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,681,186 | 2,780,307 | ||
| nssv694552 | Submitted genomic | NC_000009.9:g.(?_2 689004)_(2689606_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,689,004 | 2,689,606 | ||
| nssv699054 | Submitted genomic | NC_000009.9:g.(?_2 689004)_(2689606_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,689,004 | 2,689,606 | ||
| nssv700988 | Submitted genomic | NC_000009.9:g.(?_2 695874)_(2736548_? )dup | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,695,874 | 2,736,548 | ||
| nssv694398 | Submitted genomic | NC_000009.9:g.(?_2 720988)_(2724038_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,720,988 | 2,724,038 | ||
| nssv657571 | Submitted genomic | NC_000009.9:g.(?_2 721748)_(2724038_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,721,748 | 2,724,038 | ||
| nssv662583 | Submitted genomic | NC_000009.9:g.(?_2 721748)_(2724038_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,721,748 | 2,724,038 | ||
| nssv674844 | Submitted genomic | NC_000009.9:g.(?_2 721748)_(2724038_? )del | NCBI35 (hg17) | NC_000009.9 | Chr9 | 2,721,748 | 2,724,038 |