nsv6134558
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,436
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: 331 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134558 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 175,386,483 | 175,386,483 | 175,464,918 | 175,464,918 |
nsv6134558 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 60,000 | 60,000 | 138,430 | 138,430 |
nsv6134558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 175,104,272 | 175,104,285 | 175,182,689 | 175,182,706 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682056 | inversion | SAMN20524658 | Sequencing | Paired-end mapping | 48 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17682056 | Remapped | Good | NW_019805489.1:g.( 60000_60000)_(1384 30_138430)inv | GRCh38.p12 | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 60,000 | 60,000 | 138,430 | 138,430 |
nssv17682056 | Remapped | Good | NC_000003.12:g.(17 5386483_175386483) _(175464918_175464 918)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 175,386,483 | 175,386,483 | 175,464,918 | 175,464,918 |
nssv17682056 | Submitted genomic | NC_000003.11:g.(17 5104272_175104285) _(175182689_175182 706)inv | GRCh37 (hg19) | NC_000003.11 | Chr3 | 175,104,272 | 175,104,285 | 175,182,689 | 175,182,706 |