nsv5312919
- Organism: Homo sapiens
- Study:nstd204 (Chen 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:7,583
- Publication(s):Chen 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: 265 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5312919 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000006.12 | Chr6 | 31,903,438 (-16, +120) | 31,911,020 (-196, +9) | ||
nsv5312919 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,871,215 (-16, +120) | 31,878,797 (-196, +9) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16772808 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16772808 | Submitted genomic | NC_000006.12:g.(31 903422_31903558)_( 31910824_31911029) del | GRCh38.p13 | NC_000006.12 | Chr6 | 31,903,438 (-16, +120) | 31,911,020 (-196, +9) | ||
nssv16772808 | Remapped | Perfect | NC_000006.11:g.(31 871199_31871335)_( 31878601_31878806) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,215 (-16, +120) | 31,878,797 (-196, +9) |
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) |
---|---|
nssv16772808 | <0.001 |