nsv5304937
- 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:171,447
- 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: 788 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 788 SVs from 77 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5304937 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000004.12 | Chr4 | 32,246,858 (-10, +9) | 32,418,304 (-4, +4) | ||
nsv5304937 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 32,248,480 (-10, +9) | 32,419,926 (-4, +4) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16740718 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16740718 | Submitted genomic | NC_000004.12:g.(32 246848_32246867)_( 32418300_32418308) dup | GRCh38.p13 | NC_000004.12 | Chr4 | 32,246,858 (-10, +9) | 32,418,304 (-4, +4) | ||
nssv16740718 | Remapped | Perfect | NC_000004.11:g.(32 248470_32248489)_( 32419922_32419930) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 32,248,480 (-10, +9) | 32,419,926 (-4, +4) |
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) |
---|---|
nssv16740718 | <0.001 |