nsv4652684
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:222
- Description:nsv4220300 from gnomAD Structural Variants and nsv4996788 from Abel et. al 2020 and nsv5513282 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4652684 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 30,469,466 | 30,469,687 |
| nsv4652684 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 31,043,603 | 31,043,824 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16164317 | deletion | Curated | Curated |
| nssv16870408 | deletion | Curated | Curated |
| nssv16886458 | deletion | Curated | Curated |
| nssv17968567 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16164317 | Remapped | Perfect | NC_000013.11:g.304 69466_30469687del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 30,469,466 | 30,469,687 |
| nssv16870408 | Remapped | Perfect | NC_000013.11:g.304 69466_30469687del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 30,469,466 | 30,469,687 |
| nssv16886458 | Remapped | Perfect | NC_000013.11:g.304 69466_30469687del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 30,469,466 | 30,469,687 |
| nssv17968567 | Remapped | Perfect | NC_000013.11:g.304 69466_30469687del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 30,469,466 | 30,469,687 |
| nssv16164317 | Submitted genomic | NC_000013.10:g.310 43603_31043824del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,043,603 | 31,043,824 | ||
| nssv16870408 | Submitted genomic | NC_000013.10:g.310 43603_31043824del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,043,603 | 31,043,824 | ||
| nssv16886458 | Submitted genomic | NC_000013.10:g.310 43603_31043824del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,043,603 | 31,043,824 | ||
| nssv17968567 | Submitted genomic | NC_000013.10:g.310 43603_31043824del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,043,603 | 31,043,824 |
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) |
|---|---|---|---|
| nssv16164317 | 0.367 | 7967 | 21686 |
| nssv16870408 | 0.368 | 10772 | 29246 |
| nssv16886458 | 0.351 | 5908 | 16834 |
| nssv17968567 | 0.464 | 2971 | 6404 |