nsv5387780
- 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:203
- Description:nsv4922861 from Abel et. al 2020. 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 44 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5387780 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,242,276 | 70,242,478 |
| nsv5387780 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,107,993 | 71,108,195 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872564 | deletion | Curated | Curated |
| nssv16873811 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872564 | Remapped | Perfect | NC_000004.12:g.702 42276_70242478del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,242,276 | 70,242,478 |
| nssv16873811 | Remapped | Perfect | NC_000004.12:g.702 42276_70242478del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,242,276 | 70,242,478 |
| nssv16872564 | Submitted genomic | NC_000004.11:g.711 07993_71108195del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,107,993 | 71,108,195 | ||
| nssv16873811 | Submitted genomic | NC_000004.11:g.711 07993_71108195del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,107,993 | 71,108,195 |
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) |
|---|---|---|---|
| nssv16872564 | 0.08 | 1348 | 16834 |
| nssv16873811 | 0.095 | 2767 | 29246 |