nsv5392866
- 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:16,367
- Description:nsv4996606 from Abel et. al 2020 and nsv5509932 from Byrska-Bishop et. al 2021. 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: 221 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 221 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392866 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 24,586,567 | 24,602,933 |
| nsv5392866 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 25,160,705 | 25,177,071 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16873354 | deletion | Curated | Curated |
| nssv17962685 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16873354 | Remapped | Perfect | NC_000013.11:g.245 86567_24602933del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 24,586,567 | 24,602,933 |
| nssv17962685 | Remapped | Perfect | NC_000013.11:g.245 86567_24602933del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 24,586,567 | 24,602,933 |
| nssv16873354 | Submitted genomic | NC_000013.10:g.251 60705_25177071del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 25,160,705 | 25,177,071 | ||
| nssv17962685 | Submitted genomic | NC_000013.10:g.251 60705_25177071del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 25,160,705 | 25,177,071 |
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) |
|---|---|---|---|
| nssv16873354 | 0.026 | 768 | 29246 |
| nssv17962685 | 0.025 | 158 | 6404 |