nsv5385569
- 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:115
- Description:nsv4959077 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: 260 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 260 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5385569 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 11,178,599 | 11,178,713 |
| nsv5385569 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,168,188 | 2,168,302 |
| nsv5385569 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 11,036,108 | 11,036,222 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16878621 | deletion | Curated | Curated |
| nssv16887218 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16878621 | Remapped | Perfect | NW_018654717.1:g.2 168188_2168302del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,168,188 | 2,168,302 |
| nssv16887218 | Remapped | Perfect | NW_018654717.1:g.2 168188_2168302del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,168,188 | 2,168,302 |
| nssv16878621 | Remapped | Perfect | NC_000008.11:g.111 78599_11178713del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,178,599 | 11,178,713 |
| nssv16887218 | Remapped | Perfect | NC_000008.11:g.111 78599_11178713del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,178,599 | 11,178,713 |
| nssv16878621 | Submitted genomic | NC_000008.10:g.110 36108_11036222del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,036,108 | 11,036,222 | ||
| nssv16887218 | Submitted genomic | NC_000008.10:g.110 36108_11036222del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,036,108 | 11,036,222 |
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) |
|---|---|---|---|
| nssv16878621 | 0.067 | 1968 | 29246 |
| nssv16887218 | 0.077 | 1300 | 16834 |