nsv5665875
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:3
- 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: 305 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 43 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5665875 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 15,031,103 | 15,031,103 | ||
nsv5665875 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 16,403,424 | 16,403,424 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17118244 | insertion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
nssv17118245 | insertion | SAMN00006466 | Sequencing | Sequence alignment | 4,625 |
nssv17118246 | insertion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17118244 | Submitted genomic | NC_000021.9:g.1503 1103_15031104ins10 1 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 15,031,103 | 15,031,103 | ||
nssv17118245 | Submitted genomic | NC_000021.9:g.1503 1103_15031104ins35 1 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 15,031,103 | 15,031,103 | ||
nssv17118246 | Submitted genomic | NC_000021.9:g.1503 1103_15031104ins74 7 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 15,031,103 | 15,031,103 | ||
nssv17118244 | Remapped | Perfect | NC_000021.8:g.1640 3424_16403425ins10 1 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 16,403,424 | 16,403,424 |
nssv17118245 | Remapped | Perfect | NC_000021.8:g.1640 3424_16403425ins35 1 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 16,403,424 | 16,403,424 |
nssv17118246 | Remapped | Perfect | NC_000021.8:g.1640 3424_16403425ins74 7 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 16,403,424 | 16,403,424 |