nsv3418801
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Audano 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: 205 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3418801 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 142,348,477 | 142,348,477 | ||
nsv3418801 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 143,429,838 | 143,429,838 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14787233 | insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14787233 | Submitted genomic | NC_000008.11:g.142 348477_142348478in s67 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 142,348,477 | 142,348,477 | ||
nssv14787233 | Remapped | Perfect | NC_000008.10:g.143 429838_143429839in s67NC_000008.10:g. 143429838_14342983 9ins67 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 143,429,838 | 143,429,838 |