nsv934303
- 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:266,592
- 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: 773 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 773 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv934303 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 49,918,460 | 50,185,051 |
| nsv934303 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 50,145,598 | 50,412,189 |
| nsv934303 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 49,999,102 | 50,265,693 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1616565 | deletion | 1101 | Oligo aCGH | Probe signal intensity | nssv1616101 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1616565 | Remapped | Perfect | NC_000002.12:g.(49 910952_49918460)_( 50185051_50195144) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 49,910,952 | 49,918,460 | 50,185,051 | 50,195,144 |
| nssv1616565 | Remapped | Perfect | NC_000002.11:g.(50 138090_50145598)_( 50412189_50422282) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 50,138,090 | 50,145,598 | 50,412,189 | 50,422,282 |
| nssv1616565 | Submitted genomic | NC_000002.10:g.(49 991594_49999102)_( 50265693_50275786) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 49,991,594 | 49,999,102 | 50,265,693 | 50,275,786 |