nsv5960481
- 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:535,523
- 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: 4647 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 4672 SVs from 116 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5960481 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 22,358,261 | 22,893,783 | ||
nsv5960481 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 22,712,609 | 23,235,963 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17404637 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17404637 | Submitted genomic | NC_000022.11:g.223 58261_22893783del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 22,358,261 | 22,893,783 | ||
nssv17404637 | Remapped | Good | NC_000022.10:g.227 12609_23235963del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,712,609 | 23,235,963 |