nsv3926654
- Organism: Homo sapiens
- Study:nstd167 (Wenger 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:6,322
- Publication(s):Wenger 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: 53 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 14 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3926654 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 36,349,849 | 36,356,170 |
nsv3926654 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 36,840,751 | 36,847,072 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv15177372 | deletion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15177372 | Remapped | Perfect | NC_000019.10:g.363 49849_36356170del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 36,349,849 | 36,356,170 |
nssv15177372 | Submitted genomic | NC_000019.9:g.3684 0751_36847072del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 36,840,751 | 36,847,072 |