nsv441696
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:29,386
- Publication(s):McCarroll et al. 2008
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: 268 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv441696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nsv441696 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nsv441696 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1656671 | copy number gain | NA19131 | SNP array | Probe signal intensity | 3 | 187 |
| nssv1656672 | copy number gain | NA19132 | SNP array | Probe signal intensity | 3 | 176 |
| nssv1656673 | copy number gain | NA19137 | SNP array | Probe signal intensity | 3 | 210 |
| nssv1656674 | copy number gain | NA19144 | SNP array | Probe signal intensity | 3 | 179 |
| nssv1656675 | copy number gain | NA19193 | SNP array | Probe signal intensity | 3 | 180 |
| nssv1656676 | copy number gain | NA19194 | SNP array | Probe signal intensity | 3 | 176 |
| nssv1656677 | copy number gain | NA19204 | SNP array | Probe signal intensity | 3 | 200 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1656671 | Remapped | Perfect | NC_000001.11:g.(?_ 73216260)_(7324564 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nssv1656672 | Remapped | Perfect | NC_000001.11:g.(?_ 73216260)_(7324564 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nssv1656673 | Remapped | Perfect | NC_000001.11:g.(?_ 73216260)_(7324564 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nssv1656674 | Remapped | Perfect | NC_000001.11:g.(?_ 73216260)_(7324564 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nssv1656675 | Remapped | Perfect | NC_000001.11:g.(?_ 73216260)_(7324564 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nssv1656676 | Remapped | Perfect | NC_000001.11:g.(?_ 73216260)_(7324564 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nssv1656677 | Remapped | Perfect | NC_000001.11:g.(?_ 73216260)_(7324564 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 73,216,260 | 73,245,645 |
| nssv1656671 | Remapped | Perfect | NC_000001.10:g.(?_ 73681943)_(7371132 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nssv1656672 | Remapped | Perfect | NC_000001.10:g.(?_ 73681943)_(7371132 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nssv1656673 | Remapped | Perfect | NC_000001.10:g.(?_ 73681943)_(7371132 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nssv1656674 | Remapped | Perfect | NC_000001.10:g.(?_ 73681943)_(7371132 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nssv1656675 | Remapped | Perfect | NC_000001.10:g.(?_ 73681943)_(7371132 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nssv1656676 | Remapped | Perfect | NC_000001.10:g.(?_ 73681943)_(7371132 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nssv1656677 | Remapped | Perfect | NC_000001.10:g.(?_ 73681943)_(7371132 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 73,681,943 | 73,711,328 |
| nssv1656671 | Submitted genomic | NC_000001.8:g.(?_7 3393964)_(73423349 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 | ||
| nssv1656672 | Submitted genomic | NC_000001.8:g.(?_7 3393964)_(73423349 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 | ||
| nssv1656673 | Submitted genomic | NC_000001.8:g.(?_7 3393964)_(73423349 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 | ||
| nssv1656674 | Submitted genomic | NC_000001.8:g.(?_7 3393964)_(73423349 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 | ||
| nssv1656675 | Submitted genomic | NC_000001.8:g.(?_7 3393964)_(73423349 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 | ||
| nssv1656676 | Submitted genomic | NC_000001.8:g.(?_7 3393964)_(73423349 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 | ||
| nssv1656677 | Submitted genomic | NC_000001.8:g.(?_7 3393964)_(73423349 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 73,393,964 | 73,423,349 |