nsv5385137
- 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:325
- Description:nsv4788547 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: 96 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5385137 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 25,822,450 | 25,822,774 |
| nsv5385137 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 26,148,941 | 26,149,265 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16868783 | deletion | Curated | Curated |
| nssv16870023 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16868783 | Remapped | Perfect | NC_000001.11:g.258 22450_25822774del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,822,450 | 25,822,774 |
| nssv16870023 | Remapped | Perfect | NC_000001.11:g.258 22450_25822774del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,822,450 | 25,822,774 |
| nssv16868783 | Submitted genomic | NC_000001.10:g.261 48941_26149265del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 26,148,941 | 26,149,265 | ||
| nssv16870023 | Submitted genomic | NC_000001.10:g.261 48941_26149265del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 26,148,941 | 26,149,265 |
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) |
|---|---|---|---|
| nssv16868783 | 0.059 | 996 | 16834 |
| nssv16870023 | 0.051 | 1496 | 29246 |