nsv5896242
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,729
- Publication(s):Almarri 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: 200 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5896242 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 17,695,982 | 17,698,710 | ||
nsv5896242 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 17,696,213 | 17,698,941 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17413996 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17413996 | Submitted genomic | NC_000006.12:g.176 95982_17698710del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 17,695,982 | 17,698,710 | ||
nssv17413996 | Remapped | Perfect | NC_000006.11:g.176 96213_17698941del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 17,696,213 | 17,698,941 |