nsv5630020
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 91 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 17 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5630020 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 72,117,121 | 72,117,121 | ||
nsv5630020 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 71,412,948 | 71,412,948 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17157940 | insertion | SAMN00006466 | Sequencing | Sequence alignment | 4,625 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17157940 | Submitted genomic | NC_000005.10:g.721 17121_72117122ins3 44 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 72,117,121 | 72,117,121 | ||
nssv17157940 | Remapped | Perfect | NC_000005.9:g.7141 2948_71412949ins34 4 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 71,412,948 | 71,412,948 |