nsv516121
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:290,302
- 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: 981 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 981 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv516121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 55,678,647 | 55,968,948 |
| nsv516121 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 57,438,407 | 57,728,708 |
| nsv516121 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 57,108,413 | 57,398,714 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv666334 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv690788 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv656795 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv701443 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv666334 | Remapped | Perfect | NC_000010.11:g.(?_ 55678647)_(5596894 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,678,647 | 55,968,948 |
| nssv690788 | Remapped | Perfect | NC_000010.11:g.(?_ 55678647)_(5596894 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,678,647 | 55,968,948 |
| nssv656795 | Remapped | Perfect | NC_000010.11:g.(?_ 55679829)_(5596894 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,679,829 | 55,968,948 |
| nssv701443 | Remapped | Perfect | NC_000010.11:g.(?_ 55703275)_(5574689 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,703,275 | 55,746,898 |
| nssv666334 | Remapped | Perfect | NC_000010.10:g.(?_ 57438407)_(5772870 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 57,438,407 | 57,728,708 |
| nssv690788 | Remapped | Perfect | NC_000010.10:g.(?_ 57438407)_(5772870 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 57,438,407 | 57,728,708 |
| nssv656795 | Remapped | Perfect | NC_000010.10:g.(?_ 57439589)_(5772870 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 57,439,589 | 57,728,708 |
| nssv701443 | Remapped | Perfect | NC_000010.10:g.(?_ 57463035)_(5750665 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 57,463,035 | 57,506,658 |
| nssv666334 | Submitted genomic | NC_000010.8:g.(?_5 7108413)_(57398714 _?)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 57,108,413 | 57,398,714 | ||
| nssv690788 | Submitted genomic | NC_000010.8:g.(?_5 7108413)_(57398714 _?)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 57,108,413 | 57,398,714 | ||
| nssv656795 | Submitted genomic | NC_000010.8:g.(?_5 7109595)_(57398714 _?)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 57,109,595 | 57,398,714 | ||
| nssv701443 | Submitted genomic | NC_000010.8:g.(?_5 7133041)_(57176664 _?)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 57,133,041 | 57,176,664 |