nsv6134727
- 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:137,437
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: 535 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 535 SVs from 62 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134727 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 91,367,639 | 91,367,652 | 91,505,062 | 91,505,075 |
nsv6134727 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 92,288,790 | 92,288,803 | 92,426,213 | 92,426,226 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17680825 | deletion | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17680825 | Remapped | Perfect | NC_000004.12:g.(91 367639_91367652)_( 91505062_91505075) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 91,367,639 | 91,367,652 | 91,505,062 | 91,505,075 |
nssv17680825 | Submitted genomic | NC_000004.11:g.(92 288790_92288803)_( 92426213_92426226) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 92,288,790 | 92,288,803 | 92,426,213 | 92,426,226 |