nsv934991
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,253
- Publication(s):de Ligt 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: 1127 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 831 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1127 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv934991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 31,123,992 | 31,123,992 | 31,201,242 | 31,201,242 |
| nsv934991 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 14,784 | 14,784 | 92,036 | 92,036 |
| nsv934991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 31,276,926 | 31,276,926 | 31,354,176 | 31,354,176 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1662574 | copy number gain | 6 | Oligo aCGH | Probe signal intensity | 3 | 980 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1662574 | Remapped | Good | NT_187587.1:g.(147 84_?)_(?_92036)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 14,784 | 92,036 |
| nssv1662574 | Remapped | Perfect | NC_000012.12:g.(31 123992_?)_(?_31201 242)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,123,992 | 31,201,242 |
| nssv1662574 | Submitted genomic | NC_000012.11:g.(31 276926_?)_(?_31354 176)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,276,926 | 31,354,176 |