nsv520434
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:247,072
- Publication(s):Shaikh et al. 2009
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: 973 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 973 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv520434 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 166,165,286 | 166,412,357 |
| nsv520434 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 165,883,074 | 166,130,145 |
| nsv520434 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 167,365,776 | 167,612,847 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv671376 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv677154 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv671376 | Remapped | Perfect | NC_000003.12:g.(?_ 166165286)_(166412 357_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 166,165,286 | 166,412,357 |
| nssv677154 | Remapped | Perfect | NC_000003.12:g.(?_ 166165286)_(166412 357_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 166,165,286 | 166,412,357 |
| nssv671376 | Remapped | Perfect | NC_000003.11:g.(?_ 165883074)_(166130 145_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,883,074 | 166,130,145 |
| nssv677154 | Remapped | Perfect | NC_000003.11:g.(?_ 165883074)_(166130 145_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,883,074 | 166,130,145 |
| nssv671376 | Submitted genomic | NC_000003.9:g.(?_1 67365776)_(1676128 47_?)del | NCBI35 (hg17) | NC_000003.9 | Chr3 | 167,365,776 | 167,612,847 | ||
| nssv677154 | Submitted genomic | NC_000003.9:g.(?_1 67365776)_(1676128 47_?)del | NCBI35 (hg17) | NC_000003.9 | Chr3 | 167,365,776 | 167,612,847 |