nsv6290688
- 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:4,025,359
- Description:
Single allele AND Distal 7q11.23 microdeletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12255 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 8581 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6290688 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 75,058,300 | - | 79,083,658 | ||
| nsv6290688 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | - | 75,921,853 | 78,712,974 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956467 | deletion | Multiple | Multiple | CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB; Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb; Distal 7q11.23 microdeletion syndrome | Pathogenic | ClinVar | RCV001839073.1, VCV001342322.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv17956467 | Submitted genomic | NC_000007.14:g.(75 058300_?)_(?_79083 658)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,058,300 | - | 79,083,658 | ||
| nssv17956467 | Remapped | Pass | NC_000007.13:g.(?_ 75921853)_(?_78712 974)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | - | 75,921,853 | 78,712,974 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17956467 | GRCh38: NC_000007.14:g.(75058300_?)_(?_79083658)del | deletion | inherited | CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB; Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb; Distal 7q11.23 microdeletion syndrome | Pathogenic | ClinVar | RCV001839073.1, VCV001342322.1 |