nsv5381863
- 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:1,758
- Description:nsv4902598 from Abel et. al 2020 and nsv5421047 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: 201 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381863 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,969,205 | 32,970,962 |
| nsv5381863 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,987,322 | 32,989,079 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16882427 | deletion | Curated | Curated |
| nssv16883602 | deletion | Curated | Curated |
| nssv17967146 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16882427 | Remapped | Perfect | NC_000023.11:g.329 69205_32970962del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,969,205 | 32,970,962 |
| nssv16883602 | Remapped | Perfect | NC_000023.11:g.329 69205_32970962del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,969,205 | 32,970,962 |
| nssv17967146 | Remapped | Perfect | NC_000023.11:g.329 69205_32970962del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,969,205 | 32,970,962 |
| nssv16882427 | Submitted genomic | NC_000023.10:g.329 87322_32989079del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,987,322 | 32,989,079 | ||
| nssv16883602 | Submitted genomic | NC_000023.10:g.329 87322_32989079del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,987,322 | 32,989,079 | ||
| nssv17967146 | Submitted genomic | NC_000023.10:g.329 87322_32989079del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,987,322 | 32,989,079 |
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) |
|---|---|---|---|
| nssv16882427 | 0.315 | 5298 | 16832 |
| nssv16883602 | 0.291 | 8516 | 29240 |
| nssv17967146 | 0.226 | 1447 | 6404 |