nsv4077193
- 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:197,064
- 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: 155 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 19 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4077193 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 216,077,959 | 216,275,022 |
nsv4077193 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 216,942,682 | 217,139,745 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15970022 | duplication | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15970022 | Remapped | Perfect | NC_000002.12:g.216 077959_216275022du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 216,077,959 | 216,275,022 |
nssv15970022 | Submitted genomic | NC_000002.11:g.216 942682_217139745du p | GRCh37.p13 | NC_000002.11 | Chr2 | 216,942,682 | 217,139,745 |
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) |
---|---|---|---|
nssv15970022 | 4.6e-005 | 1 | 21694 |