nsv6122742
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,002
- Description:nsv5526123 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 568 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 568 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6122742 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,266,000 | 15,278,000 |
| nsv6122742 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 384,560 | 396,561 |
| nsv6122742 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,359,857 | 15,371,857 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17964695 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17964695 | Remapped | Good | NT_187607.1:g.3845 60_396561dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 384,560 | 396,561 |
| nssv17964695 | Remapped | Perfect | NC_000016.10:g.152 66000_15278000dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,266,000 | 15,278,000 |
| nssv17964695 | Submitted genomic | NC_000016.9:g.1535 9857_15371857dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,359,857 | 15,371,857 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17964695 | 0.35 | 2229 | 6364 |