nsv5951500
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:316
- Publication(s):Almarri et al. 2020
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: 257 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5951500 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 37,005,030 | 37,005,345 | ||
nsv5951500 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 38,377,330 | 38,377,645 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17398018 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17398018 | Submitted genomic | NC_000021.9:g.3700 5030_37005345del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 37,005,030 | 37,005,345 | ||
nssv17398018 | Remapped | Perfect | NC_000021.8:g.3837 7330_38377645del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 38,377,330 | 38,377,645 |