nsv5880970
- 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:50
- 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: 553 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 666 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5880970 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 148,298,023 | 148,298,072 | ||
nsv5880970 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,770,130 | 147,770,179 |
nsv5880970 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,113,436 | 5,113,485 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17368933 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17368933 | Submitted genomic | NC_000001.11:g.148 298023_148298072de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 148,298,023 | 148,298,072 | ||
nssv17368933 | Remapped | Perfect | NW_003871055.3:g.5 113436_5113485del | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,113,436 | 5,113,485 |
nssv17368933 | Remapped | Perfect | NC_000001.10:g.147 770130_147770179de l | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,770,130 | 147,770,179 |