nsv4642851
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:311
- Description:nsv4232198 from gnomAD Structural Variants and nsv5499909 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: 159 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4642851 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 86,129,547 | 86,129,857 |
| nsv4642851 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654720.1 | Chr12|NW_0 18654720.1 | 35,404 | 35,714 |
| nsv4642851 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 86,523,325 | 86,523,635 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16178779 | deletion | Curated | Curated |
| nssv17962260 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16178779 | Remapped | Perfect | NW_018654720.1:g.3 5404_35714del | GRCh38.p12 | Second Pass | NW_018654720.1 | Chr12|NW_0 18654720.1 | 35,404 | 35,714 |
| nssv17962260 | Remapped | Perfect | NW_018654720.1:g.3 5404_35714del | GRCh38.p12 | Second Pass | NW_018654720.1 | Chr12|NW_0 18654720.1 | 35,404 | 35,714 |
| nssv16178779 | Remapped | Perfect | NC_000012.12:g.861 29547_86129857del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,129,547 | 86,129,857 |
| nssv17962260 | Remapped | Perfect | NC_000012.12:g.861 29547_86129857del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,129,547 | 86,129,857 |
| nssv16178779 | Submitted genomic | NC_000012.11:g.865 23325_86523635del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,523,325 | 86,523,635 | ||
| nssv17962260 | Submitted genomic | NC_000012.11:g.865 23325_86523635del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,523,325 | 86,523,635 |
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) |
|---|---|---|---|
| nssv16178779 | 0.699 | 15143 | 21662 |
| nssv17962260 | 0.764 | 4889 | 6404 |