nsv6960547
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,275,414
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: 17499 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 17503 SVs from 120 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6960547 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 93,794,809 | 100,070,222 | ||
nsv6960547 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 94,338,038 | 100,610,427 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18399501 | deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18399501 | Submitted genomic | NC_000015.10:g.937 94809_100070222del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 93,794,809 | 100,070,222 | ||
nssv18399501 | Remapped | Good | NC_000015.9:g.9433 8038_100610427del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 94,338,038 | 100,610,427 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv18399501 | 5.4e-05 | 13 | 237484 |