nsv6135098
- 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:250,724
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: 727 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 727 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135098 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 59,139,847 | 59,139,847 | 59,390,570 | 59,390,570 |
nsv6135098 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 58,435,674 | 58,435,691 | 58,686,379 | 58,686,396 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681368 | deletion | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17681368 | Remapped | Perfect | NC_000005.10:g.(59 139847_59139847)_( 59390570_59390570) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 59,139,847 | 59,139,847 | 59,390,570 | 59,390,570 |
nssv17681368 | Submitted genomic | NC_000005.9:g.(584 35674_58435691)_(5 8686379_58686396)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 58,435,674 | 58,435,691 | 58,686,379 | 58,686,396 |