nsv3890190
- 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:28,171
- Description:
GRCh37/hg19 12p13.33(chr12:148034-176816)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 240 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890190 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 45,740 | 67,650 |
| nsv3890190 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571049.1 | Chr12|NW_0 03571049.1 | 33,495 | 61,665 |
| nsv3890190 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 148,034 | 176,816 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142690 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000447790.3, VCV000395411.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142690 | Remapped | Good | NW_003571049.1:g.( ?_33495)_(61665_?) dup | GRCh38.p12 | Second Pass | NW_003571049.1 | Chr12|NW_0 03571049.1 | 33,495 | 61,665 |
| nssv15142690 | Remapped | Pass | NC_000012.12:g.(?_ 45740)_(67650_?)du p | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,740 | 67,650 |
| nssv15142690 | Submitted genomic | NC_000012.11:g.(?_ 148034)_(176816_?) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 148,034 | 176,816 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142690 | GRCh37: NC_000012.11:g.(?_148034)_(176816_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000447790.3, VCV000395411.3 | 3 |