nsv820024
- 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:49,061
- 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: 499 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 499 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 257 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820024 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 70,458,973 | 70,508,033 |
| nsv820024 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 70,852,753 | 70,901,813 |
| nsv820024 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 69,139,020 | 69,188,080 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418745 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418745 | Remapped | Perfect | NC_000012.12:g.(?_ 70458973)_(7050803 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 70,458,973 | 70,508,033 |
| nssv1418745 | Remapped | Perfect | NC_000012.11:g.(?_ 70852753)_(7090181 3_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 70,852,753 | 70,901,813 |
| nssv1418745 | Submitted genomic | NC_000012.10:g.(?_ 69139020)_(6918808 0_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 69,139,020 | 69,188,080 |