nsv6121183
- 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:95
- Description:nsv5521154 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: 392 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 392 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6121183 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,690,839 | 16,690,933 |
| nsv6121183 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,351,763 | 2,351,857 |
| nsv6121183 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 16,784,696 | 16,784,790 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17966714 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17966714 | Remapped | Perfect | NT_187607.1:g.2351 763_2351857del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,351,763 | 2,351,857 |
| nssv17966714 | Remapped | Perfect | NC_000016.10:g.166 90839_16690933del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,690,839 | 16,690,933 |
| nssv17966714 | Submitted genomic | NC_000016.9:g.1678 4696_16784790del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 16,784,696 | 16,784,790 |
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) |
|---|---|---|---|
| nssv17966714 | 0.014 | 91 | 6386 |