nsv4449706
- Organism: Homo sapiens
- Study:nstd177 (Louzada et al. 2020)
- Variant Type:copy number variation
- Method Type:PCR
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:130,670
- Publication(s):Louzada 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: 891 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 891 SVs from 86 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4449706 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,801,866 | 143,801,941 | 143,932,460 | 143,932,535 |
nsv4449706 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,723,019 | 144,723,094 | 144,853,613 | 144,853,688 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv15768594 | duplication | SAMN00000940 | PCR | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15768594 | Remapped | Perfect | NC_000004.12:g.(14 3801866_143801941) _(143932460_143932 535)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,801,866 | 143,801,941 | 143,932,460 | 143,932,535 |
nssv15768594 | Submitted genomic | NC_000004.11:g.(14 4723019_144723094) _(144853613_144853 688)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,723,019 | 144,723,094 | 144,853,613 | 144,853,688 |