nsv6720
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:96,030
- Publication(s):Kidd et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 591 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 591 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 55,457,820 | 55,553,849 |
| nsv6720 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 57,217,580 | 57,313,609 |
| nsv6720 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 56,887,586 | 56,983,615 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv6398 | Remapped | Perfect | NC_000010.11:g.(55 457820_?)_(?_55553 849)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,457,820 | 55,553,849 |
| nssv6398 | Remapped | Perfect | NC_000010.10:g.(57 217580_?)_(?_57313 609)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 57,217,580 | 57,313,609 |
| nssv6398 | Submitted genomic | NC_000010.8:g.(568 87586_?)_(?_569836 15)del72496 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 56,887,586 | 56,983,615 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv6398 | 3 | NA12156 | Multiple complete digestion | MCD analysis | Pass |