nsv428156
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:200,736
- Publication(s):Perry 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: 1968 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1947 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 488 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428156 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nsv428156 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nsv428156 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv450884 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv450885 | copy number loss | HGDP00471 | BAC aCGH | Probe signal intensity | 73 |
| nssv450887 | copy number loss | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv450888 | copy number loss | NA18498 | BAC aCGH | Probe signal intensity | 97 |
| nssv450889 | copy number loss | NA19096 | BAC aCGH | Probe signal intensity | 100 |
| nssv450890 | copy number loss | NA19113 | BAC aCGH | Probe signal intensity | 122 |
| nssv450891 | copy number loss | NA19147 | BAC aCGH | Probe signal intensity | 75 |
| nssv450892 | copy number loss | NA19181 | BAC aCGH | Probe signal intensity | 87 |
| nssv450893 | copy number loss | NA19189 | BAC aCGH | Probe signal intensity | 94 |
| nssv450894 | copy number loss | NA19257 | BAC aCGH | Probe signal intensity | 86 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv450884 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450885 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450887 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450888 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450889 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450890 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450891 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450892 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450893 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450894 | Remapped | Good | NC_000006.12:g.(?_ 168482707)_(168683 442_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,482,707 | 168,683,442 |
| nssv450884 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450885 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450887 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450888 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450889 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450890 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450891 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450892 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450893 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450894 | Remapped | Good | NC_000006.11:g.(?_ 168883387)_(169083 558_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 168,883,387 | 169,083,558 |
| nssv450884 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450885 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450887 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450888 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450889 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450890 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450891 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450892 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450893 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 | ||
| nssv450894 | Submitted genomic | NC_000006.10:g.(?_ 168626236)_(168825 483_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 168,626,236 | 168,825,483 |