nsv4249212
- 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:120
- 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: 53 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4249212 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 69,159,926 | 69,160,044 |
| nsv4249212 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315946.1 | Chr16|NW_0 03315946.1 | 69,778 | 69,897 |
| nsv4249212 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000016.9 | Chr16 | 69,193,829 | 69,193,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15829424 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15829424 | Remapped | Good | NW_003315946.1:g.6 9778_69897del | GRCh38.p12 | Second Pass | NW_003315946.1 | Chr16|NW_0 03315946.1 | 69,778 | 69,897 |
| nssv15829424 | Remapped | Perfect | NC_000016.10:g.691 59926_69160044del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 69,159,926 | 69,160,044 |
| nssv15829424 | Submitted genomic | NC_000016.9:g.6919 3829_69193947del | GRCh37.p13 | NC_000016.9 | Chr16 | 69,193,829 | 69,193,947 |
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) |
|---|---|---|---|
| nssv15829424 | 4.6e-005 | 1 | 21694 |