nsv821690
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:433,264
- Publication(s):Sebat et al. 2004
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: 1601 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1610 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 7 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 |
---|---|---|---|---|---|---|---|---|---|
nsv821690 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 20,770,321 | 21,203,584 |
nsv821690 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 22,142,639 | 22,575,903 |
nsv821690 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000021.7 | Chr21 | 21,064,510 | 21,497,774 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1421328 | copy number loss | ROMA | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1421328 | Remapped | Perfect | NC_000021.9:g.(?_2 0770321)_(21203584 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 20,770,321 | 21,203,584 |
nssv1421328 | Remapped | Perfect | NC_000021.8:g.(?_2 2142639)_(22575903 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 22,142,639 | 22,575,903 |
nssv1421328 | Submitted genomic | NC_000021.7:g.(?_2 1064510)_(21497774 _?)del | NCBI35 (hg17) | NC_000021.7 | Chr21 | 21,064,510 | 21,497,774 |