nsv4651703
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,278
- Description:nsv4237870 from gnomAD Structural Variants. 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: 198 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4651703 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000015.10 | Chr15 | 82,440,025 | 82,455,302 |
| nsv4651703 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187606.1 | Chr15|NT_1 87606.1 | 229,105 | 244,355 |
| nsv4651703 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 83,108,750 | 83,124,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16167658 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16167658 | Remapped | Perfect | NT_187606.1:g.2291 05_244355del | GRCh38.p12 | First Pass | NT_187606.1 | Chr15|NT_1 87606.1 | 229,105 | 244,355 |
| nssv16167658 | Remapped | Good | NC_000015.10:g.824 40025_82455302del | GRCh38.p12 | Second Pass | NC_000015.10 | Chr15 | 82,440,025 | 82,455,302 |
| nssv16167658 | Submitted genomic | NC_000015.9:g.8310 8750_83124000del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 83,108,750 | 83,124,000 |
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) |
|---|---|---|---|
| nssv16167658 | 0.438 | 9497 | 21694 |