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dbVar

Database of genomic structural variation

nsv7094861

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:985

Description:NC_000017.10:g.(?_16842861)_(16843845_?)dup AND Immunodeficiency, common variable, 2

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: 178 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):16,939,547-16,940,531

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094861	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	16,939,547	16,940,531
nsv7094861	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	16,842,861	16,843,845

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790762	duplication	Multiple	Multiple	Common variable immunodeficiency; Common variable immunodeficiency 2; IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2	Uncertain significance	ClinVar	RCV003116612.2, VCV002425819.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790762	Remapped	Perfect	NC_000017.11:g.(?_ 16939547)_(1694053 1_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	16,939,547	16,940,531
nssv18790762	Submitted genomic		NC_000017.10:g.(?_ 16842861)_(1684384 5_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	16,842,861	16,843,845

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
nssv18790762	GRCh37: NC_000017.10:g.(?_16842861)_(16843845_?)dup	duplication	germline	Common variable immunodeficiency; Common variable immunodeficiency 2; IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2	Uncertain significance	ClinVar	RCV003116612.2, VCV002425819.2

No genotype data were submitted for this variant

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