nsv4220300
- 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:222
- 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: 60 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 11 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4220300 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 30,469,466 | 30,469,687 |
nsv4220300 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000013.10 | Chr13 | 31,043,603 | 31,043,824 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15813772 | deletion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15813772 | Remapped | Perfect | NC_000013.11:g.304 69466_30469687del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 30,469,466 | 30,469,687 |
nssv15813772 | Submitted genomic | NC_000013.10:g.310 43603_31043824del | GRCh37.p13 | NC_000013.10 | Chr13 | 31,043,603 | 31,043,824 |
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) |
---|---|---|---|
nssv15813772 | 0.367 | 7967 | 21686 |