nsv949125
- Organism: Homo sapiens
- Study:nstd85 (vanSilfhout et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:247,222
- Publication(s):Vulto-van Silfhout et al. 2013
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: 853 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 853 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv949125 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 65,307,886 | 65,555,107 |
| nsv949125 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 66,173,604 | 66,420,825 |
| nsv949125 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 66,002,370 | 66,249,591 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767756 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767756 | Remapped | Perfect | NC_000004.12:g.(?_ 65307886)_(6555510 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,307,886 | 65,555,107 |
| nssv2767756 | Remapped | Perfect | NC_000004.11:g.(?_ 66173604)_(6642082 5_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 66,173,604 | 66,420,825 |
| nssv2767756 | Submitted genomic | NC_000004.9:g.(?_6 6002370)_(66249591 _?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 66,002,370 | 66,249,591 |