nsv5384027
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:915
- Description:nsv4787895 from Abel et. al 2020 and nsv5424558 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 294 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5384027 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 150,759,462 | 150,760,376 |
| nsv5384027 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 149,927,934 | 149,928,848 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16879558 | deletion | Curated | Curated |
| nssv16883007 | deletion | Curated | Curated |
| nssv17961266 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16879558 | Remapped | Perfect | NC_000023.11:g.150 759462_150760376de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,759,462 | 150,760,376 |
| nssv16883007 | Remapped | Perfect | NC_000023.11:g.150 759462_150760376de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,759,462 | 150,760,376 |
| nssv17961266 | Remapped | Perfect | NC_000023.11:g.150 759462_150760376de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,759,462 | 150,760,376 |
| nssv16879558 | Submitted genomic | NC_000023.10:g.149 927934_149928848de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 149,927,934 | 149,928,848 | ||
| nssv16883007 | Submitted genomic | NC_000023.10:g.149 927934_149928848de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 149,927,934 | 149,928,848 | ||
| nssv17961266 | Submitted genomic | NC_000023.10:g.149 927934_149928848de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 149,927,934 | 149,928,848 |
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) |
|---|---|---|---|
| nssv16879558 | 0.045 | 763 | 16834 |
| nssv16883007 | 0.052 | 1528 | 29246 |
| nssv17961266 | 0.023 | 147 | 6404 |