nsv6994441
- 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:5,909
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: 247 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 47 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6994441 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 37,000,729 | 37,006,637 | ||
nsv6994441 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 35,358,028 | 35,363,936 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18408141 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18408141 | Submitted genomic | NC_000017.11:g.370 00729_37006637del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 37,000,729 | 37,006,637 | ||
nssv18408141 | Remapped | Perfect | NC_000017.10:g.353 58028_35363936del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 35,358,028 | 35,363,936 |
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) |
---|---|---|---|
nssv18408141 | 4e-06 | 1 | 275970 |