nsv6029850
- Organism: Homo sapiens
- Study:nstd212 (Wu et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,781
- Publication(s):Wu et al. 2021
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: 197 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6029850 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 46,974,500 | 46,976,280 | ||
nsv6029850 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,051,866 | 45,053,646 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17625199 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17625199 | Submitted genomic | NC_000017.11:g.469 74500_46976280del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 46,974,500 | 46,976,280 | ||
nssv17625199 | Remapped | Perfect | NC_000017.10:g.450 51866_45053646del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,051,866 | 45,053,646 |