nsv4636539
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:140
- Description:esv3877816 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4531393 from gnomAD Structural Variants and nsv5521051 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: 102 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4636539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 68,480,432 | 68,480,571 |
| nsv4636539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 68,514,335 | 68,514,474 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16174831 | deletion | Curated | Curated |
| nssv16181687 | deletion | Curated | Curated |
| nssv17965035 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16174831 | Remapped | Perfect | NC_000016.10:g.684 80432_68480571del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 68,480,432 | 68,480,571 |
| nssv16181687 | Remapped | Perfect | NC_000016.10:g.684 80432_68480571del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 68,480,432 | 68,480,571 |
| nssv17965035 | Remapped | Perfect | NC_000016.10:g.684 80432_68480571del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 68,480,432 | 68,480,571 |
| nssv16174831 | Submitted genomic | NC_000016.9:g.6851 4335_68514474del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 68,514,335 | 68,514,474 | ||
| nssv16181687 | Submitted genomic | NC_000016.9:g.6851 4335_68514474del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 68,514,335 | 68,514,474 | ||
| nssv17965035 | Submitted genomic | NC_000016.9:g.6851 4335_68514474del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 68,514,335 | 68,514,474 |
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) |
|---|---|---|---|
| nssv16174831 | 0.031 | 665 | 21660 |
| nssv16181687 | 0.02 | 100 | 5008 |
| nssv17965035 | 0.025 | 163 | 6404 |