nsv471604
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:158,735
- Publication(s):Sharp et al. 2005
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: 562 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 557 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471604 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 51,416,463 | 51,575,197 |
| nsv471604 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 51,159,315 | 51,318,049 |
| nsv471604 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1,129,578 | 1,288,312 |
| nsv471604 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000023.7 | ChrX | 50,076,121 | 50,234,855 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv550529 | copy number gain | GM10971 | BAC aCGH | Probe signal intensity | 56 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv550529 | Remapped | Perfect | NC_000023.11:g.(?_ 51416463)_(5157519 7_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 51,416,463 | 51,575,197 |
| nssv550529 | Remapped | Perfect | NW_004070877.1:g.( ?_1129578)_(128831 2_?)dup | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1,129,578 | 1,288,312 |
| nssv550529 | Remapped | Perfect | NC_000023.10:g.(?_ 51159315)_(5131804 9_?)dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 51,159,315 | 51,318,049 |
| nssv550529 | Submitted genomic | NC_000023.7:g.(?_5 0076121)_(50234855 _?)dup | NCBI34 (hg16) | NC_000023.7 | ChrX | 50,076,121 | 50,234,855 |