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dbVar

Database of genomic structural variation

nsv5381123

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:3,839

Description:NC_000019.9:g.(?_852326)_(856164_?)dup AND multiple conditions
Publication(s):Dale et al. 2002

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 247 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):852,326-856,164

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381123	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	852,326	856,164
nsv5381123	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187622.1	Chr19\|NT_1 87622.1	31,213	35,050
nsv5381123	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	852,326	856,164

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17956006	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	RCV001796441.7, VCV001022834.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956006	Remapped	Good	NT_187622.1:g.(?_3 1213)_(35050_?)dup	GRCh38.p12	Second Pass	NT_187622.1	Chr19\|NT_1 87622.1	31,213	35,050
nssv17956006	Remapped	Perfect	NC_000019.10:g.(?_ 852326)_(856164_?) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	852,326	856,164
nssv17956006	Submitted genomic		NC_000019.9:g.(?_8 52326)_(856164_?)d up	GRCh37 (hg19)		NC_000019.9	Chr19	852,326	856,164

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
nssv17956006	GRCh37: NC_000019.9:g.(?_852326)_(856164_?)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	RCV001796441.7, VCV001022834.3

No genotype data were submitted for this variant

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