nsv6315450
- 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:2,571,512
- Description:GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1 AND Microcephaly
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12131 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 12131 SVs from 117 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315450 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 155,596,766 | 158,168,277 |
| nsv6315450 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 155,389,460 | 157,960,969 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977070 | copy number loss | Multiple | Multiple | Microcephaly; Microcephaly | Pathogenic | ClinVar | RCV002284311.1, VCV001705937.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977070 | Remapped | Perfect | NC_000007.14:g.(15 5596766_?)_(?_1581 68277)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,596,766 | 158,168,277 |
| nssv17977070 | Submitted genomic | NC_000007.13:g.(15 5389460_?)_(?_1579 60969)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 155,389,460 | 157,960,969 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977070 | GRCh37: NC_000007.13:g.(155389460_?)_(?_157960969)del | copy number loss | unknown | Microcephaly; Microcephaly | Pathogenic | ClinVar | RCV002284311.1, VCV001705937.1 | 1 |