nsv4434900
- Organism: Homo sapiens
- Study:nstd172 (Deng et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:87,000
- Publication(s):Deng et al. 2019
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: 1745 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1745 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4434900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 296,001 | 383,000 |
| nsv4434900 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000006.11 | Chr6 | 296,001 | 383,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15746066 | duplication | MDQ045 | Sequencing | Sequence alignment | 724 |
| nssv15748593 | duplication | MDQ010 | Sequencing | Sequence alignment | 777 |
| nssv15751234 | duplication | BTQ016 | Sequencing | Sequence alignment | 628 |
| nssv15753850 | duplication | MDQ025 | Sequencing | Sequence alignment | 671 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15746066 | Remapped | Perfect | NC_000006.12:g.296 001_383000dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 296,001 | 383,000 |
| nssv15748593 | Remapped | Perfect | NC_000006.12:g.296 001_383000dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 296,001 | 383,000 |
| nssv15751234 | Remapped | Perfect | NC_000006.12:g.296 001_383000dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 296,001 | 383,000 |
| nssv15753850 | Remapped | Perfect | NC_000006.12:g.296 001_383000dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 296,001 | 383,000 |
| nssv15746066 | Submitted genomic | NC_000006.11:g.296 001_383000dup | GRCh37.p13 | NC_000006.11 | Chr6 | 296,001 | 383,000 | ||
| nssv15748593 | Submitted genomic | NC_000006.11:g.296 001_383000dup | GRCh37.p13 | NC_000006.11 | Chr6 | 296,001 | 383,000 | ||
| nssv15751234 | Submitted genomic | NC_000006.11:g.296 001_383000dup | GRCh37.p13 | NC_000006.11 | Chr6 | 296,001 | 383,000 | ||
| nssv15753850 | Submitted genomic | NC_000006.11:g.296 001_383000dup | GRCh37.p13 | NC_000006.11 | Chr6 | 296,001 | 383,000 |