nsv7148264
- 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:1,402,849
- Description:GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3 AND Chromosome 22q11.2 microduplication syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5802 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 6684 SVs from 124 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148264 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,316,073 | 24,718,921 |
| nsv7148264 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 23,658,260 | 25,114,888 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842029 | copy number gain | Multiple | Multiple | 22q11.2 duplication syndrome; CHROMOSOME 22q11.2 DUPLICATION SYNDROME; Chromosome 22q11.2 microduplication syndrome | Pathogenic | ClinVar | RCV003329499.1, VCV002580295.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842029 | Remapped | Good | NC_000022.11:g.(?_ 23316073)_(2471892 1_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,316,073 | 24,718,921 |
| nssv18842029 | Submitted genomic | NC_000022.10:g.(?_ 23658260)_(2511488 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 23,658,260 | 25,114,888 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842029 | GRCh37: NC_000022.10:g.(?_23658260)_(25114888_?)dup | copy number gain | paternal | 22q11.2 duplication syndrome; CHROMOSOME 22q11.2 DUPLICATION SYNDROME; Chromosome 22q11.2 microduplication syndrome | Pathogenic | ClinVar | RCV003329499.1, VCV002580295.1 | 3 |