nsv935227
- 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:15,610
- 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: 1769 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1230 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1769 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv935227 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 1,521,774 | 1,521,774 | 1,537,383 | 1,537,383 |
| nsv935227 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,145 | 204,145 | 219,754 | 219,754 |
| nsv935227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 1,525,546 | 1,525,546 | 1,541,155 | 1,541,155 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1667433 | copy number loss | 4 | Oligo aCGH | Probe signal intensity | 1 | 1,068 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1667433 | Remapped | Perfect | NT_187529.1:g.(204 145_?)_(?_219754)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 204,145 | 219,754 |
| nssv1667433 | Remapped | Perfect | NC_000002.12:g.(15 21774_?)_(?_153738 3)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,521,774 | 1,537,383 |
| nssv1667433 | Submitted genomic | NC_000002.11:g.(15 25546_?)_(?_154115 5)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 1,525,546 | 1,541,155 |