nsv4578345
- Organism: Homo sapiens
- Study:nstd182 (Al-Mubarak 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:54,547
- Description:14q31.1
- Publication(s):Al-Mubarak 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: 260 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578345 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 78,876,611 | 78,931,157 |
| nsv4578345 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 79,342,954 | 79,397,500 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity |
|---|---|---|---|---|---|---|
| nssv16091773 | copy number loss | ADHDF19 | SNP array | Genotyping | 1 | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091773 | Remapped | Perfect | NC_000014.9:g.(?_7 8876611)_(78931157 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 78,876,611 | 78,931,157 |
| nssv16091773 | Submitted genomic | NC_000014.8:g.(?_7 9342954)_(79397500 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 79,342,954 | 79,397,500 |