nsv4452856
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:247
- Description:NC_000019.9:g.(?_855938)_(856184_?)dup AND multiple conditions
- Publication(s):Dale et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 212 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4452856 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 855,938 | 856,184 |
| nsv4452856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 855,938 | 856,184 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956004 | duplication | Multiple | Multiple | CYCLIC NEUTROPENIA; Cyclic neutropenia; Cyclic neutropenia; Cyclical neutropenia; ELANE-Related Neutropenia; NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1; Severe congenital neutropenia autosomal dominant | Uncertain significance | ClinVar | RCV001796226.8, VCV000641564.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv17956004 | Submitted genomic | NC_000019.10:g.(?_ 855938)_(856184_?) dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 855,938 | 856,184 |
| nssv17956004 | Submitted genomic | NC_000019.9:g.(?_8 55938)_(856184_?)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 855,938 | 856,184 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17956004 | GRCh37: NC_000019.9:g.(?_855938)_(856184_?)dup, GRCh38: NC_000019.10:g.(?_855938)_(856184_?)dup | duplication | germline | CYCLIC NEUTROPENIA; Cyclic neutropenia; Cyclic neutropenia; Cyclical neutropenia; ELANE-Related Neutropenia; NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1; Severe congenital neutropenia autosomal dominant | Uncertain significance | ClinVar | RCV001796226.8, VCV000641564.4 |