nsv4454594
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:35,630
- Description:
NC_000012.11:g.(?_25362709)_(25398338_?)dup AND RASopathy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 181 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4454594 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 25,209,775 | 25,245,404 |
| nsv4454594 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 25,362,709 | 25,398,338 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770874 | duplication | Multiple | Multiple | RASopathy | Uncertain significance | ClinVar | RCV000820576.5, VCV000662834.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770874 | Submitted genomic | NC_000012.12:g.(?_ 25209775)_(2524540 4_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 25,209,775 | 25,245,404 |
| nssv15770874 | Submitted genomic | NC_000012.11:g.(?_ 25362709)_(2539833 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 25,362,709 | 25,398,338 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770874 | GRCh37: NC_000012.11:g.(?_25362709)_(25398338_?)dup, GRCh38: NC_000012.12:g.(?_25209775)_(25245404_?)dup | duplication | germline | RASopathy | Uncertain significance | ClinVar | RCV000820576.5, VCV000662834.5 |