nsv4639886
- 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:327
- Description:nsv4261212 from gnomAD Structural Variants and nsv5517328 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: 164 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4639886 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 77,239,882 | 77,240,208 |
| nsv4639886 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 30,775 | 31,099 |
| nsv4639886 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 75,235,964 | 75,236,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16172193 | deletion | Curated | Curated |
| nssv17958229 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16172193 | Remapped | Good | NW_003315955.1:g.3 0775_31099del | GRCh38.p12 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 30,775 | 31,099 |
| nssv17958229 | Remapped | Good | NW_003315955.1:g.3 0775_31099del | GRCh38.p12 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 30,775 | 31,099 |
| nssv16172193 | Remapped | Perfect | NC_000017.11:g.772 39882_77240208del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 77,239,882 | 77,240,208 |
| nssv17958229 | Remapped | Perfect | NC_000017.11:g.772 39882_77240208del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 77,239,882 | 77,240,208 |
| nssv16172193 | Submitted genomic | NC_000017.10:g.752 35964_75236290del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 75,235,964 | 75,236,290 | ||
| nssv17958229 | Submitted genomic | NC_000017.10:g.752 35964_75236290del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 75,235,964 | 75,236,290 |
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) |
|---|---|---|---|
| nssv16172193 | 0.456 | 9393 | 20614 |
| nssv17958229 | 0.469 | 3002 | 6404 |