nsv482991
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:142,607
- Publication(s):Iafrate 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: 529 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 57 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 |
---|---|---|---|---|---|---|---|---|---|
nsv482991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 34,935,079 | 35,077,685 |
nsv482991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 36,307,376 | 36,449,982 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv2996192 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv2996192 | Remapped | Perfect | NC_000021.9:g.(?_3 4935079)_(35077685 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 34,935,079 | 35,077,685 |
nssv2996192 | Submitted genomic | NC_000021.8:g.(?_3 6307376)_(36449982 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 36,307,376 | 36,449,982 |