nsv4655237
- 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:314
- Description:nsv4230285 from gnomAD Structural Variants and nsv5494696 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: 118 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4655237 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,067,985 | 21,068,298 |
| nsv4655237 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,536,144 | 21,536,457 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16163643 | deletion | Curated | Curated |
| nssv17963371 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16163643 | Remapped | Perfect | NC_000014.9:g.2106 7985_21068298del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,067,985 | 21,068,298 |
| nssv17963371 | Remapped | Perfect | NC_000014.9:g.2106 7985_21068298del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,067,985 | 21,068,298 |
| nssv16163643 | Submitted genomic | NC_000014.8:g.2153 6144_21536457del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,536,144 | 21,536,457 | ||
| nssv17963371 | Submitted genomic | NC_000014.8:g.2153 6144_21536457del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,536,144 | 21,536,457 |
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) |
|---|---|---|---|
| nssv16163643 | 0.585 | 12685 | 21666 |
| nssv17963371 | 0.69 | 4418 | 6404 |