nsv4232296
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:994
- Publication(s):gnomAD_Structural_Variants
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: 23 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 6 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4232296 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 52,705,041 | 52,706,034 |
nsv4232296 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000014.8 | Chr14 | 53,171,759 | 53,172,752 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15821085 | deletion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15821085 | Remapped | Perfect | NC_000014.9:g.5270 5041_52706034del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 52,705,041 | 52,706,034 |
nssv15821085 | Submitted genomic | NC_000014.8:g.5317 1759_53172752del | GRCh37.p13 | NC_000014.8 | Chr14 | 53,171,759 | 53,172,752 |
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) |
---|---|---|---|
nssv15821085 | 4.7e-005 | 1 | 21372 |