nsv3167717
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,709
- Description:qual score = 99
- Publication(s):Exome Aggregation Consortium CNVs
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: 411 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 393 SVs from 46 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3167717 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 44,521,880 | 44,528,588 |
nsv3167717 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 45,941,763 | 45,948,471 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14232352 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14232352 | Remapped | Perfect | NC_000021.9:g.(?_4 4521880)_(44528588 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 44,521,880 | 44,528,588 |
nssv14232352 | Submitted genomic | NC_000021.8:g.(?_4 5941763)_(45948471 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 45,941,763 | 45,948,471 |