nsv482204
- Organism: Homo sapiens
- Study:nstd39 (Schuster et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,038
- Description:GIP
- Publication(s):Schuster et al. 2010
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: 265 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv482204 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 48,958,556 | 48,968,593 |
| nsv482204 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 47,035,918 | 47,045,955 |
| nsv482204 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 44,390,917 | 44,400,954 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558565 | copy number loss | KB1 | Sequencing | Read depth | 1 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558565 | Remapped | Perfect | NC_000017.11:g.(48 958556_?)_(?_48968 593)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 48,958,556 | 48,968,593 |
| nssv558565 | Remapped | Perfect | NC_000017.10:g.(47 035918_?)_(?_47045 955)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 47,035,918 | 47,045,955 |
| nssv558565 | Submitted genomic | NC_000017.9:g.(443 90917_?)_(?_444009 54)del | NCBI35 (hg17) | NC_000017.9 | Chr17 | 44,390,917 | 44,400,954 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558565 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |