nsv6135926
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:90,000
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: 899 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1042 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6135926 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 60,432,255 | 60,522,254 |
| nsv6135926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 57,400,000 | 57,490,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678581 | copy number gain | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
| nssv17678808 | copy number gain | SAMN20524664 | Sequencing | Paired-end mapping | 739 |
| nssv17678851 | copy number gain | SAMN20524654 | Sequencing | Paired-end mapping | 440 |
| nssv17679494 | copy number gain | SAMN20524658 | Sequencing | Paired-end mapping | 48 |
| nssv17680686 | copy number gain | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
| nssv17682266 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678581 | Remapped | Good | NC_000006.12:g.604 32255_60522254dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,432,255 | 60,522,254 |
| nssv17678808 | Remapped | Good | NC_000006.12:g.604 32255_60522254dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,432,255 | 60,522,254 |
| nssv17678851 | Remapped | Good | NC_000006.12:g.604 32255_60522254dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,432,255 | 60,522,254 |
| nssv17679494 | Remapped | Good | NC_000006.12:g.604 32255_60522254dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,432,255 | 60,522,254 |
| nssv17680686 | Remapped | Good | NC_000006.12:g.604 32255_60522254dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,432,255 | 60,522,254 |
| nssv17682266 | Remapped | Good | NC_000006.12:g.604 32255_60522254dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,432,255 | 60,522,254 |
| nssv17678581 | Submitted genomic | NC_000006.11:g.574 00000_57490001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,400,000 | 57,490,001 | ||
| nssv17678808 | Submitted genomic | NC_000006.11:g.574 00000_57490001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,400,000 | 57,490,001 | ||
| nssv17678851 | Submitted genomic | NC_000006.11:g.574 00000_57490001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,400,000 | 57,490,001 | ||
| nssv17679494 | Submitted genomic | NC_000006.11:g.574 00000_57490001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,400,000 | 57,490,001 | ||
| nssv17680686 | Submitted genomic | NC_000006.11:g.574 00000_57490001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,400,000 | 57,490,001 | ||
| nssv17682266 | Submitted genomic | NC_000006.11:g.574 00000_57490001dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,400,000 | 57,490,001 |