nsv5380708
- Organism: Homo sapiens
- Study:nstd208 (Si et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,766,581
- Publication(s):Si et al. 2022
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: 10526 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9816 SVs from 128 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5380708 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,105,710 |
nsv5380708 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,910,000 | 21,459,999 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv16865863 | deletion | psh01-DJW | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16865863 | Remapped | Pass | NC_000022.11:g.183 39130_21105710del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,105,710 |
nssv16865863 | Submitted genomic | NC_000022.10:g.189 10000_21459999del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,910,000 | 21,459,999 |