nsv436974
- Organism: Homo sapiens
- Study:nstd17 (Conrad et al. 2005)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:157,801
- Publication(s):Conrad et al. 2005
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: 781 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 781 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv436974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,919,977 | 168,040,205 | 168,066,892 | 168,077,777 |
| nsv436974 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 168,841,128 | 168,961,356 | 168,988,043 | 168,998,928 |
| nsv436974 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000004.8 | Chr4 | 169,537,018 | 169,657,246 | 169,683,933 | 169,694,818 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv466855 | Remapped | Perfect | NC_000004.12:g.(16 7919977_168040205) _(168066892_168077 777)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,919,977 | 168,040,205 | 168,066,892 | 168,077,777 |
| nssv466855 | Remapped | Perfect | NC_000004.11:g.(16 8841128_168961356) _(168988043_168998 928)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,841,128 | 168,961,356 | 168,988,043 | 168,998,928 |
| nssv466855 | Submitted genomic | NC_000004.8:g.(169 537018_169657246)_ (169683933_1696948 18)del | NCBI34 (hg16) | NC_000004.8 | Chr4 | 169,537,018 | 169,657,246 | 169,683,933 | 169,694,818 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466855 | 2 | NA10851 | Oligo aCGH | Probe signal intensity | Pass |