nsv3914194
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:133,075,537
- Description:GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)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: 365840 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 364285 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 94482 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914194 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 121,271 | 133,196,807 |
| nsv3914194 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 282,465 | 133,773,393 |
| nsv3914194 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 100,698 | 132,283,466 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161798 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139555.7, VCV000150740.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161798 | Submitted genomic | NC_000012.12:g.(?_ 121271)_(133196807 _?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 121,271 | 133,196,807 |
| nssv15161798 | Submitted genomic | NC_000012.11:g.(?_ 282465)_(133773393 _?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 282,465 | 133,773,393 |
| nssv15161798 | Submitted genomic | NC_000012.10:g.(?_ 100698)_(132283466 _?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 100,698 | 132,283,466 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161798 | GRCh37: NC_000012.11:g.(?_282465)_(133773393_?)dup, GRCh38: NC_000012.12:g.(?_121271)_(133196807_?)dup, NCBI36: NC_000012.10:g.(?_100698)_(132283466_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139555.7, VCV000150740.2 | 3 |