nsv4055116
- 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:26,001
- 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: 75 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4055116 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 31,799,931 | 31,825,931 |
nsv4055116 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 32,025,000 | 32,051,000 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15967876 | duplication | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15967876 | Remapped | Perfect | NC_000002.12:g.317 99931_31825931dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 31,799,931 | 31,825,931 |
nssv15967876 | Submitted genomic | NC_000002.11:g.320 25000_32051000dup | GRCh37.p13 | NC_000002.11 | Chr2 | 32,025,000 | 32,051,000 |
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) |
---|---|---|---|
nssv15967876 | 4.6e-005 | 1 | 21682 |