nsv5914319
- 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:10,953
- 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: 172 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5914319 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 60,598,274 | 60,609,226 | ||
nsv5914319 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 61,510,833 | 61,521,785 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17445183 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17445183 | Submitted genomic | NC_000008.11:g.605 98274_60609226del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 60,598,274 | 60,609,226 | ||
nssv17445183 | Remapped | Perfect | NC_000008.10:g.615 10833_61521785del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 61,510,833 | 61,521,785 |