nsv4268787
- 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:220
- 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 5 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 5 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4268787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 76,724,791 | 76,725,010 |
nsv4268787 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 74,720,873 | 74,721,092 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15836345 | deletion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15836345 | Remapped | Perfect | NC_000017.11:g.767 24791_76725010del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 76,724,791 | 76,725,010 |
nssv15836345 | Submitted genomic | NC_000017.10:g.747 20873_74721092del | GRCh37.p13 | NC_000017.10 | Chr17 | 74,720,873 | 74,721,092 |
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) |
---|---|---|---|
nssv15836345 | 4.6e-005 | 1 | 21694 |