nsv430428
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:Merging, SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:167,146
- Publication(s):Marshall et al. 2008
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: 593 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 593 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 106,135,174 | 106,302,319 |
| nsv430428 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 106,005,901 | 106,173,046 |
| nsv430428 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 105,511,111 | 105,678,256 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv561517 | copy number gain | 43749 | Merging, SNP array | Merging, SNP genotyping analysis | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv561517 | Remapped | Perfect | NC_000011.10:g.(?_ 106135174)_(106302 319_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 106,135,174 | 106,302,319 |
| nssv561517 | Remapped | Perfect | NC_000011.9:g.(?_1 06005901)_(1061730 46_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 106,005,901 | 106,173,046 |
| nssv561517 | Submitted genomic | NC_000011.8:g.(?_1 05511111)_(1056782 56_?)dup | NCBI35 (hg17) | NC_000011.8 | Chr11 | 105,511,111 | 105,678,256 |