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dbVar

Database of genomic structural variation

nsv7095872

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:365,837

Description:NC_000001.10:g.(?_92941586)_(93307422_?)del AND Neutropenia, severe congenital, 2, autosomal dominant

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: 1213 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):92,476,029-92,841,865

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095872	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	92,476,029	92,841,865
nsv7095872	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	92,941,586	93,307,422

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790511	deletion	Multiple	Multiple	Autosomal dominant severe congenital neutropenia; NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2; Severe congenital neutropenia 2, autosomal dominant	Uncertain significance	ClinVar	RCV003116345.2, VCV002425332.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790511	Remapped	Perfect	NC_000001.11:g.(?_ 92476029)_(9284186 5_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	92,476,029	92,841,865
nssv18790511	Submitted genomic		NC_000001.10:g.(?_ 92941586)_(9330742 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	92,941,586	93,307,422

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
nssv18790511	GRCh37: NC_000001.10:g.(?_92941586)_(93307422_?)del	deletion	germline	Autosomal dominant severe congenital neutropenia; NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2; Severe congenital neutropenia 2, autosomal dominant	Uncertain significance	ClinVar	RCV003116345.2, VCV002425332.2

No genotype data were submitted for this variant

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