nsv5385771
- 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:1,043
- Description:nsv4949292 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: 143 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5385771 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 179,629,135 | 179,630,177 |
| nsv5385771 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 395,423 | 396,410 |
| nsv5385771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 179,056,136 | 179,057,178 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16882758 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16882758 | Remapped | Pass | NW_016107298.1:g.3 95423_396410dup | GRCh38.p12 | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 395,423 | 396,410 |
| nssv16882758 | Remapped | Perfect | NC_000005.10:g.179 629135_179630177du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 179,629,135 | 179,630,177 |
| nssv16882758 | Submitted genomic | NC_000005.9:g.1790 56136_179057178dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 179,056,136 | 179,057,178 |
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) |
|---|---|---|---|
| nssv16882758 | 0.088 | 2559 | 29246 |