nsv933923
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:239,056
- Publication(s):Boone et al. 2013
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: 971 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 971 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv933923 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 146,753,860 | 146,992,915 |
| nsv933923 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 146,450,952 | 146,690,007 |
| nsv933923 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 146,081,885 | 146,320,940 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1614670 | deletion | 1757 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1614670 | Remapped | Perfect | NC_000007.14:g.(14 6743857_146753860) _(146992915_147003 288)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,743,857 | 146,753,860 | 146,992,915 | 147,003,288 |
| nssv1614670 | Remapped | Perfect | NC_000007.13:g.(14 6440949_146450952) _(146690007_146700 380)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,440,949 | 146,450,952 | 146,690,007 | 146,700,380 |
| nssv1614670 | Submitted genomic | NC_000007.12:g.(14 6071882_146081885) _(146320940_146331 313)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 146,071,882 | 146,081,885 | 146,320,940 | 146,331,313 |