nsv6134557
- Organism: Homo sapiens
- Study:nstd213 (Pham 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:107,112
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: 401 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 173,743,120 | 173,743,122 | 173,850,229 | 173,850,231 |
nsv6134557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 173,460,910 | 173,460,912 | 173,568,019 | 173,568,021 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17683395 | deletion | SAMN20524661 | Sequencing | Paired-end mapping | 62 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17683395 | Remapped | Perfect | NC_000003.12:g.(17 3743120_173743122) _(173850229_173850 231)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 173,743,120 | 173,743,122 | 173,850,229 | 173,850,231 |
nssv17683395 | Submitted genomic | NC_000003.11:g.(17 3460910_173460912) _(173568019_173568 021)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 173,460,910 | 173,460,912 | 173,568,019 | 173,568,021 |