nsv7148241
- 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:20,334,226
- Description:GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 AND Chromosome 4q21 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: 52718 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 52725 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7148241 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 79,123,548 | 99,457,773 | ||
nsv7148241 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 80,044,702 | 100,378,930 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18841931 | copy number loss | Multiple | Multiple | 4q21 microdeletion syndrome; CHROMOSOME 4q21 DELETION SYNDROME; Chromosome 4q21 deletion syndrome | Pathogenic | ClinVar | RCV003327709.1, VCV002579270.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18841931 | Submitted genomic | NC_000004.12:g.791 23548_99457773del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 79,123,548 | 99,457,773 | ||
nssv18841931 | Remapped | Perfect | NC_000004.11:g.800 44702_100378930del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 80,044,702 | 100,378,930 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18841931 | GRCh38: NC_000004.12:g.79123548_99457773del | copy number loss | unknown | 4q21 microdeletion syndrome; CHROMOSOME 4q21 DELETION SYNDROME; Chromosome 4q21 deletion syndrome | Pathogenic | ClinVar | RCV003327709.1, VCV002579270.1 | 1 |