nsv6120837
- 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:255
- Description:nsv5533256 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: 736 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 453 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 736 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6120837 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,003,543 | 16,003,797 |
| nsv6120837 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,661,421 | 1,661,675 |
| nsv6120837 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 16,097,400 | 16,097,654 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17967013 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17967013 | Remapped | Perfect | NT_187607.1:g.1661 421_1661675del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,661,421 | 1,661,675 |
| nssv17967013 | Remapped | Perfect | NC_000016.10:g.160 03543_16003797del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,003,543 | 16,003,797 |
| nssv17967013 | Submitted genomic | NC_000016.9:g.1609 7400_16097654del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 16,097,400 | 16,097,654 |
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) |
|---|---|---|---|
| nssv17967013 | 0.067 | 432 | 6404 |