nsv4731454
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,646
- Publication(s):Quan et al. 2021
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: 195 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 43 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4731454 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 105,520,479 | 105,522,124 |
nsv4731454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 105,160,926 | 105,162,571 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16278510 | duplication | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16278510 | Remapped | Perfect | NC_000007.14:g.105 520479_105522124du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 105,520,479 | 105,522,124 |
nssv16278510 | Submitted genomic | NC_000007.13:g.105 160926_105162571du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 105,160,926 | 105,162,571 |