nsv998784
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,233,146
- Publication(s):Coe et al. 2014
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: 193232 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 193249 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 55260 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv998784 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 122,299,891 | 189,533,036 |
| nsv998784 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 123,221,046 | 190,454,190 |
| nsv998784 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 123,440,496 | 190,691,184 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3459413 | copy number gain | 9885676 | Oligo aCGH | Probe signal intensity | nssv3443729, nssv3472851 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3459413 | Remapped | Good | NC_000004.12:g.(?_ 122299891)_(189533 036_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 122,299,891 | 189,533,036 |
| nssv3459413 | Remapped | Good | NC_000004.11:g.(?_ 123221046)_(190454 190_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 123,221,046 | 190,454,190 |
| nssv3459413 | Submitted genomic | NC_000004.10:g.(?_ 123440496)_(190691 184_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 123,440,496 | 190,691,184 |