nsv3067119
- Organism: Homo sapiens
- Study:nstd139 (Luo et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:55,501
- Publication(s):Luo 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: 755 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 755 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3067119 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 43,602,302 | 43,657,802 |
| nsv3067119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 43,894,500 | 43,950,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Zygosity |
|---|---|---|---|---|---|---|
| nssv14038721 | copy number loss | SAMN06209342 | Sequencing | Paired-end mapping | Male infertility | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14038721 | Remapped | Perfect | NC_000015.10:g.436 02302_43657802del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,602,302 | 43,657,802 |
| nssv14038721 | Submitted genomic | NC_000015.9:g.4389 4500_43950000del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,894,500 | 43,950,000 |