nsv7148181
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,269,777
- Description:GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1 AND Multiple congenital anomalies/dysmorphic syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6170 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 6162 SVs from 106 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148181 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 98,454,022 | 100,723,798 | ||
| nsv7148181 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 98,083,334 | 100,321,421 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841935 | copy number loss | Multiple | Multiple | Multiple congenital anomalies/dysmorphic syndrome | Pathogenic | ClinVar | RCV003327701.1, VCV002579262.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841935 | Submitted genomic | NC_000007.14:g.984 54022_100723798del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 98,454,022 | 100,723,798 | ||
| nssv18841935 | Remapped | Good | NC_000007.13:g.980 83334_100321421del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 98,083,334 | 100,321,421 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841935 | GRCh38: NC_000007.14:g.98454022_100723798del | copy number loss | de novo | Multiple congenital anomalies/dysmorphic syndrome | Pathogenic | ClinVar | RCV003327701.1, VCV002579262.1 | 1 |