nsv7098827
- 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:15,782,539
- Description:NC_000001.10:g.4481271_20530242del 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: 50213 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 50563 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098827 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 4,421,211 | 20,203,749 |
| nsv7098827 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 4,481,271 | 20,530,242 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792748 | deletion | Multiple | Multiple | 1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome | Pathogenic | ClinVar | RCV003159574.1, VCV002446820.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792748 | Remapped | Good | NC_000001.11:g.442 1211_20203749del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 4,421,211 | 20,203,749 |
| nssv18792748 | Submitted genomic | NC_000001.10:g.448 1271_20530242del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 4,481,271 | 20,530,242 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792748 | GRCh37: NC_000001.10:g.4481271_20530242del | deletion | germline | 1p36 deletion syndrome; CHROMOSOME 1p36 DELETION SYNDROME; Chromosome 1p36 Deletion Syndrome; Chromosome 1p36 deletion syndrome | Pathogenic | ClinVar | RCV003159574.1, VCV002446820.1 |