nsv6314841
- 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:1,018,273
- Description:
Single allele AND Chromosome 1p36 deletion syndrome - Publication(s):Gregg et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8146 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 8139 SVs from 120 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314841 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 817,861 | 1,836,133 | ||
| nsv6314841 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 753,241 | 1,767,572 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976301 | deletion | Multiple | Multiple | 1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome | Pathogenic | ClinVar | RCV002247723.2, VCV001684638.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976301 | Submitted genomic | NC_000001.11:g.817 861_1836133del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 817,861 | 1,836,133 | ||
| nssv17976301 | Remapped | Good | NC_000001.10:g.753 241_1767572del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 753,241 | 1,767,572 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976301 | GRCh38: NC_000001.11:g.817861_1836133del | deletion | germline | 1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome | Pathogenic | ClinVar | RCV002247723.2, VCV001684638.2 |