nsv7148201
- 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:30,794,464
- Description:GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 AND Chromosome 3q13.31 deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 71147 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 71151 SVs from 134 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148201 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 93,979,547 | 124,774,010 | ||
| nsv7148201 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 93,698,391 | 124,492,857 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842017 | copy number loss | Multiple | Multiple | CHROMOSOME 3q13.31 DELETION SYNDROME; Chromosome 3q13.31 deletion syndrome | Pathogenic | ClinVar | RCV003327614.3, VCV002579175.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842017 | Submitted genomic | NC_000003.12:g.939 79547_124774010del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 93,979,547 | 124,774,010 | ||
| nssv18842017 | Remapped | Perfect | NC_000003.11:g.936 98391_124492857del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 93,698,391 | 124,492,857 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842017 | GRCh38: NC_000003.12:g.93979547_124774010del | copy number loss | de novo | CHROMOSOME 3q13.31 DELETION SYNDROME; Chromosome 3q13.31 deletion syndrome | Pathogenic | ClinVar | RCV003327614.3, VCV002579175.1 | 1 |