nsv3907610
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,223,878
- Description:GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11876 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 11876 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907610 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 100,186,420 | 105,410,297 |
| nsv3907610 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 100,580,198 | 105,804,075 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969550 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053014.3, VCV001527728.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969550 | Remapped | Perfect | NC_000012.12:g.(?_ 100186420)_(105410 297_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 100,186,420 | 105,410,297 |
| nssv17969550 | Submitted genomic | NC_000012.11:g.(?_ 100580198)_(105804 075_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 100,580,198 | 105,804,075 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969550 | GRCh37: NC_000012.11:g.(?_100580198)_(105804075_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053014.3, VCV001527728.3 |