nsv3318983
- Organism: Homo sapiens
- Study:nstd163 (Gupta et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:62
- Publication(s):Gupta 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: 827 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 827 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318983 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 168,075,858 | 168,075,919 |
| nsv3318983 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 168,476,538 | 168,476,599 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity |
|---|---|---|---|---|---|
| nssv14472004 | deletion | HG02186 | Sequencing | Sequence alignment | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14472004 | Remapped | Perfect | NC_000006.12:g.168 075858_168075919de l62 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,075,858 | 168,075,919 |
| nssv14472004 | Submitted genomic | NC_000006.11:g.168 476538_168476599de l62 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,476,538 | 168,476,599 |