nsv5893317
- 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:956
- 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: 475 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 475 SVs from 47 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5893317 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 186,081,212 | 186,082,167 | ||
nsv5893317 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 187,002,366 | 187,003,321 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17417325 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17417325 | Submitted genomic | NC_000004.12:g.186 081212_186082167de l | GRCh38 (hg38) | NC_000004.12 | Chr4 | 186,081,212 | 186,082,167 | ||
nssv17417325 | Remapped | Perfect | NC_000004.11:g.187 002366_187003321de l | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 187,002,366 | 187,003,321 |