nsv6135100
- 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:188,579
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: 781 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 781 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135100 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 9,216,650 | 9,216,672 | 9,405,199 | 9,405,228 |
nsv6135100 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 9,216,762 | 9,216,784 | 9,405,311 | 9,405,340 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682418 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17682418 | Remapped | Perfect | NC_000005.10:g.(92 16650_9216672)_(94 05199_9405228)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 9,216,650 | 9,216,672 | 9,405,199 | 9,405,228 |
nssv17682418 | Submitted genomic | NC_000005.9:g.(921 6762_9216784)_(940 5311_9405340)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 9,216,762 | 9,216,784 | 9,405,311 | 9,405,340 |