nsv4520105
- 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:162
- 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: 35 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4520105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 102,887,964 | 102,888,125 |
| nsv4520105 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 103,504,423 | 103,504,584 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15870942 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15870942 | Remapped | Perfect | NC_000002.12:g.102 887964_102888125de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 102,887,964 | 102,888,125 |
| nssv15870942 | Submitted genomic | NC_000002.11:g.103 504423_103504584de l | GRCh37.p13 | NC_000002.11 | Chr2 | 103,504,423 | 103,504,584 |
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) |
|---|---|---|---|
| nssv15870942 | 0.012 | 265 | 21684 |