nsv5571182
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,788
- Publication(s):Ebert et al. 2021
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: 357 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 71 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5571182 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 118,204,256 | 118,209,043 | ||
nsv5571182 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 119,125,411 | 119,130,198 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17125480 | deletion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17125480 | Submitted genomic | NC_000004.12:g.118 204256_118209043de lT | GRCh38 (hg38) | NC_000004.12 | Chr4 | 118,204,256 | 118,209,043 | ||
nssv17125480 | Remapped | Perfect | NC_000004.11:g.119 125411_119130198de lT | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 119,125,411 | 119,130,198 |