nsv441761
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,289
- 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: 199 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv441761 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 75,551,854 | 75,583,142 |
| nsv441761 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 75,778,980 | 75,810,268 |
| nsv441761 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 75,690,635 | 75,721,923 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1657008 | copy number gain | NA18858 | SNP array | Probe signal intensity | 3 | 177 |
| nssv1657009 | copy number gain | NA18913 | SNP array | Probe signal intensity | 3 | 196 |
| nssv1657010 | copy number gain | NA18914 | SNP array | Probe signal intensity | 3 | 165 |
| nssv1657011 | copy number gain | NA19238 | SNP array | Probe signal intensity | 3 | 197 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1657008 | Remapped | Perfect | NC_000002.12:g.(?_ 75551854)_(7558314 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 75,551,854 | 75,583,142 |
| nssv1657009 | Remapped | Perfect | NC_000002.12:g.(?_ 75551854)_(7558314 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 75,551,854 | 75,583,142 |
| nssv1657010 | Remapped | Perfect | NC_000002.12:g.(?_ 75551854)_(7558314 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 75,551,854 | 75,583,142 |
| nssv1657011 | Remapped | Perfect | NC_000002.12:g.(?_ 75551854)_(7558314 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 75,551,854 | 75,583,142 |
| nssv1657008 | Remapped | Perfect | NC_000002.11:g.(?_ 75778980)_(7581026 8_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 75,778,980 | 75,810,268 |
| nssv1657009 | Remapped | Perfect | NC_000002.11:g.(?_ 75778980)_(7581026 8_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 75,778,980 | 75,810,268 |
| nssv1657010 | Remapped | Perfect | NC_000002.11:g.(?_ 75778980)_(7581026 8_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 75,778,980 | 75,810,268 |
| nssv1657011 | Remapped | Perfect | NC_000002.11:g.(?_ 75778980)_(7581026 8_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 75,778,980 | 75,810,268 |
| nssv1657008 | Submitted genomic | NC_000002.9:g.(?_7 5690635)_(75721923 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 75,690,635 | 75,721,923 | ||
| nssv1657009 | Submitted genomic | NC_000002.9:g.(?_7 5690635)_(75721923 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 75,690,635 | 75,721,923 | ||
| nssv1657010 | Submitted genomic | NC_000002.9:g.(?_7 5690635)_(75721923 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 75,690,635 | 75,721,923 | ||
| nssv1657011 | Submitted genomic | NC_000002.9:g.(?_7 5690635)_(75721923 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 75,690,635 | 75,721,923 |