nsv4679253
- Organism: Homo sapiens
- Study:nstd189 (Perez-Palma et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:538,900
- Publication(s):Pérez-Palma et al. 2020
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: 1224 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 1230 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679253 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 131,301,823 | 131,840,722 |
| nsv4679253 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000023.10 | ChrX | 130,435,797 | 130,974,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16209585 | duplication | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209585 | Remapped | Good | NC_000023.11:g.(?_ 131301823)_(131840 722_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 131,301,823 | 131,840,722 |
| nssv16209585 | Submitted genomic | NC_000023.10:g.(?_ 130435797)_(130974 750_?)dup | GRCh37.p13 | NC_000023.10 | ChrX | 130,435,797 | 130,974,750 |
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) |
|---|---|
| nssv16209585 | <0.001 |