nsv5666637
- 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: 370 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 370 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5666637 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 44,338,932 | 44,338,932 | ||
nsv5666637 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 45,758,815 | 45,758,815 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17119567 | insertion | SAMN00249812 | Sequencing | Sequence alignment | 1,255 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17119567 | Submitted genomic | NC_000021.9:g.4433 8932_44338933ins13 2 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 44,338,932 | 44,338,932 | ||
nssv17119567 | Remapped | Perfect | NC_000021.8:g.4575 8815_45758816ins13 2 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 45,758,815 | 45,758,815 |