nsv4387385
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:557,442
- Publication(s):Zarrei et al. 2019
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: 2962 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3103 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387385 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,951,951 | 22,509,392 |
| nsv4387385 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,420,174 | 22,978,376 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15673717 | copy number gain | 227575 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15673717 | Remapped | Good | NC_000014.9:g.(?_2 1951951)_(22509392 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,951,951 | 22,509,392 |
| nssv15673717 | Submitted genomic | NC_000014.8:g.(?_2 2420174)_(22978376 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,420,174 | 22,978,376 |