nsv6135840
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:120,002
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: 2119 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2119 SVs from 96 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6135840 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 260,000 | 380,001 |
| nsv6135840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 260,000 | 380,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17677510 | copy number gain | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
| nssv17678425 | copy number gain | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
| nssv17678785 | copy number gain | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
| nssv17680565 | copy number gain | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
| nssv17680839 | copy number gain | SAMN20524661 | Sequencing | Paired-end mapping | 62 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17677510 | Remapped | Perfect | NC_000006.12:g.260 000_380001dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 260,000 | 380,001 |
| nssv17678425 | Remapped | Perfect | NC_000006.12:g.260 000_380001dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 260,000 | 380,001 |
| nssv17678785 | Remapped | Perfect | NC_000006.12:g.260 000_380001dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 260,000 | 380,001 |
| nssv17680565 | Remapped | Perfect | NC_000006.12:g.260 000_380001dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 260,000 | 380,001 |
| nssv17680839 | Remapped | Perfect | NC_000006.12:g.260 000_380001dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 260,000 | 380,001 |
| nssv17677510 | Submitted genomic | NC_000006.11:g.260 000_380001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 260,000 | 380,001 | ||
| nssv17678425 | Submitted genomic | NC_000006.11:g.260 000_380001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 260,000 | 380,001 | ||
| nssv17678785 | Submitted genomic | NC_000006.11:g.260 000_380001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 260,000 | 380,001 | ||
| nssv17680565 | Submitted genomic | NC_000006.11:g.260 000_380001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 260,000 | 380,001 | ||
| nssv17680839 | Submitted genomic | NC_000006.11:g.260 000_380001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 260,000 | 380,001 |