nsv5880282
- 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:100
- 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: 375 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 371 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5880282 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 72,426,665 | 72,426,764 | ||
nsv5880282 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 71,646,515 | 71,646,614 |
nsv5880282 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 115,682 | 115,781 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17460407 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17460407 | Submitted genomic | NC_000023.11:g.724 26665_72426764del | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,426,665 | 72,426,764 | ||
nssv17460407 | Remapped | Perfect | NW_004070882.1:g.1 15682_115781del | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 115,682 | 115,781 |
nssv17460407 | Remapped | Perfect | NC_000023.10:g.716 46515_71646614del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 71,646,515 | 71,646,614 |