nsv4190943
- 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:377,428
- 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: 397 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4190943 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 23,099,441 | 23,476,868 |
nsv4190943 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000009.11 | Chr9 | 23,099,440 | 23,476,866 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15934335 | deletion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15934335 | Remapped | Perfect | NC_000009.12:g.230 99441_23476868del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 23,099,441 | 23,476,868 |
nssv15934335 | Submitted genomic | NC_000009.11:g.230 99440_23476866del | GRCh37.p13 | NC_000009.11 | Chr9 | 23,099,440 | 23,476,866 |
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) |
---|---|---|---|
nssv15934335 | 4.6e-005 | 1 | 21692 |