nsv4205732
- 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:37,503
- 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: 71 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 14 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4205732 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 72,137,454 | 72,174,956 |
nsv4205732 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000011.9 | Chr11 | 71,848,500 | 71,886,000 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15952999 | duplication | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15952999 | Remapped | Good | NC_000011.10:g.721 37454_72174956dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 72,137,454 | 72,174,956 |
nssv15952999 | Submitted genomic | NC_000011.9:g.7184 8500_71886000dup | GRCh37.p13 | NC_000011.9 | Chr11 | 71,848,500 | 71,886,000 |
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) |
---|---|---|---|
nssv15952999 | <0.001 | 3 | 21690 |