nsv5878993
- 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:1,205,038
- 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: 3136 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2750 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1124 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5878993 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,598,638 | 155,803,675 | ||
nsv5878993 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,826,899 | 154,906,585 |
nsv5878993 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,032,617 | 3,110,903 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17446506 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17446506 | Submitted genomic | NC_000023.11:g.154 598638_155803675de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,598,638 | 155,803,675 | ||
nssv17446506 | Remapped | Pass | NW_003871103.3:g.2 032617_3110903del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,032,617 | 3,110,903 |
nssv17446506 | Remapped | Pass | NC_000023.10:g.153 826899_154906585de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,826,899 | 154,906,585 |