nsv819212
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:64,203
- Publication(s):Kim 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: 685 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819212 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 41,134,929 | 41,199,131 |
| nsv819212 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 41,604,134 | 41,668,334 |
| nsv819212 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 40,673,884 | 40,738,084 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1418847 | copy number loss | SAMN00002681 | SNP array | Probe signal intensity | 1 | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418847 | Remapped | Good | NC_000014.9:g.(?_4 1134929)_(41199131 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,134,929 | 41,199,131 |
| nssv1418847 | Remapped | Perfect | NC_000014.8:g.(?_4 1604134)_(41668334 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,604,134 | 41,668,334 |
| nssv1418847 | Submitted genomic | NC_000014.7:g.(?_4 0673884)_(40738084 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,673,884 | 40,738,084 |