nsv6134121
- 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:287,479
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: 747 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 747 SVs from 58 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 192,927,439 | 192,927,441 | 193,214,915 | 193,214,917 |
nsv6134121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 193,792,165 | 193,792,167 | 194,079,641 | 194,079,643 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679157 | deletion | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17679157 | Remapped | Perfect | NC_000002.12:g.(19 2927439_192927441) _(193214915_193214 917)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 192,927,439 | 192,927,441 | 193,214,915 | 193,214,917 |
nssv17679157 | Submitted genomic | NC_000002.11:g.(19 3792165_193792167) _(194079641_194079 643)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 193,792,165 | 193,792,167 | 194,079,641 | 194,079,643 |