nsv5947185
- 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:473
- 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: 112 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5947185 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 17,416,575 | 17,417,047 | ||
nsv5947185 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 17,397,220 | 17,397,692 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17394133 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17394133 | Submitted genomic | NC_000020.11:g.174 16575_17417047del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 17,416,575 | 17,417,047 | ||
nssv17394133 | Remapped | Perfect | NC_000020.10:g.173 97220_17397692del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 17,397,220 | 17,397,692 |