nsv819089
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,544
- 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: 773 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 773 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819089 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,762,999 | 55,793,542 |
| nsv819089 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 55,796,911 | 55,827,454 |
| nsv819089 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 54,354,412 | 54,384,955 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418717 | copy number loss | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418717 | Remapped | Perfect | NC_000016.10:g.(?_ 55762999)_(5579354 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,762,999 | 55,793,542 |
| nssv1418717 | Remapped | Perfect | NC_000016.9:g.(?_5 5796911)_(55827454 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 55,796,911 | 55,827,454 |
| nssv1418717 | Submitted genomic | NC_000016.8:g.(?_5 4354412)_(54384955 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 54,354,412 | 54,384,955 |