nsv4637740
- 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:34,756
- Description:nsv4243113 from gnomAD Structural Variants. 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: 611 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 327 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 58 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4637740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,235,743 | 16,270,493 |
nsv4637740 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,893,741 | 1,928,496 |
nsv4637740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 16,329,600 | 16,364,350 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16168408 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16168408 | Remapped | Good | NT_187607.1:g.1893 741_1928496del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,893,741 | 1,928,496 |
nssv16168408 | Remapped | Perfect | NC_000016.10:g.162 35743_16270493del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,235,743 | 16,270,493 |
nssv16168408 | Submitted genomic | NC_000016.9:g.1632 9600_16364350del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 16,329,600 | 16,364,350 |
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) |
---|---|---|---|
nssv16168408 | 0.172 | 3730 | 21694 |