nsv5876678
- 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:1,598,180
- 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: 4475 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 4502 SVs from 112 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5876678 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 95,981,467 | 97,579,646 | ||
nsv5876678 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 96,647,215 | 98,196,109 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17407013 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17407013 | Submitted genomic | NC_000002.12:g.959 81467_97579646del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 95,981,467 | 97,579,646 | ||
nssv17407013 | Remapped | Good | NC_000002.11:g.966 47215_98196109del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 96,647,215 | 98,196,109 |