nsv436384
- Organism: Homo sapiens
- Study:nstd16 (Korbel et al. 2007)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:32,432
- Publication(s):Korbel et al. 2007
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: 232 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv436384 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 62,678,658 | 62,711,089 |
nsv436384 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 62,664,333 | 62,696,764 |
nsv436384 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 62,639,373 | 62,671,804 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv466002 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 822 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv466002 | Remapped | Perfect | NC_000003.12:g.(62 678658_?)_(?_62711 089)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 62,678,658 | 62,711,089 |
nssv466002 | Remapped | Perfect | NC_000003.11:g.(62 664333_?)_(?_62696 764)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 62,664,333 | 62,696,764 |
nssv466002 | Submitted genomic | NC_000003.10:g.(62 639373_?)_(?_62671 804)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 62,639,373 | 62,671,804 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv466002 | 4 | SAMN00001583 | PCR | Manual observation | Pass |