nsv5869101
- 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:99
- 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: 382 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 10 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5869101 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 73,075,949 | 73,076,047 | ||
nsv5869101 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 72,295,788 | 72,295,886 |
nsv5869101 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 764,966 | 765,064 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17458074 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17458074 | Submitted genomic | NC_000023.11:g.730 75949_73076047del | GRCh38 (hg38) | NC_000023.11 | ChrX | 73,075,949 | 73,076,047 | ||
nssv17458074 | Remapped | Perfect | NW_004070882.1:g.7 64966_765064del | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 764,966 | 765,064 |
nssv17458074 | Remapped | Perfect | NC_000023.10:g.722 95788_72295886del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 72,295,788 | 72,295,886 |