nsv432602
- 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:247,301
- 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: 856 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 856 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv432602 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 52,097,906 | 52,345,206 |
| nsv432602 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 52,964,072 | 53,211,372 |
| nsv432602 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 52,805,000 | 53,052,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv558841 | copy number gain | 47005 | Merging, SNP array | Merging, SNP genotyping analysis | nssv565906 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558841 | Remapped | Perfect | NC_000004.12:g.(?_ 52097906)_(5234520 6_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 52,097,906 | 52,345,206 |
| nssv558841 | Remapped | Perfect | NC_000004.11:g.(?_ 52964072)_(5321137 2_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 52,964,072 | 53,211,372 |
| nssv558841 | Submitted genomic | NC_000004.9:g.(?_5 2805000)_(53052300 _?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 52,805,000 | 53,052,300 |