nsv4685995
- 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:2,787,395
- Description:GRCh37/hg19 9q34.3(chr9:138225001-141015001) 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: 13470 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 13386 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685995 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 135,333,155 | 138,120,549 |
| nsv4685995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,225,001 | 141,015,001 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216873 | copy number loss | Multiple | Multiple | Microcephaly; Microcephaly | Pathogenic | ClinVar | RCV001252947.1, VCV000813716.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216873 | Remapped | Good | NC_000009.12:g.(13 5333155_?)_(?_1381 20549)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,333,155 | 138,120,549 |
| nssv16216873 | Submitted genomic | NC_000009.11:g.(13 8225001_?)_(?_1410 15001)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,225,001 | 141,015,001 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216873 | GRCh37: NC_000009.11:g.(138225001_?)_(?_141015001)del | copy number loss | germline | Microcephaly; Microcephaly | Pathogenic | ClinVar | RCV001252947.1, VCV000813716.1 |