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dbVar

Database of genomic structural variation

nsv7137181

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:10,312

Description:NC_000023.10:g.(?_138612923)_(138619546_138623
234)del AND Hereditary factor IX deficiency disease
Publication(s):Collins et al. 2012, Jenkins et al. 2012, Konkle et al. 2000, Ludwig et al. 1989

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: 125 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):139,530,764-139,541,075

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv7137181	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	139,530,764	139,537,387	139,541,075
nsv7137181	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	138,612,923	138,619,546	138,623,234

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830944	deletion	Multiple	Multiple	HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease	Pathogenic	ClinVar	RCV000011376.6, VCV000010632.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv18830944	Remapped	Perfect	NC_000023.11:g.(?_ 139530764)_(139537 387_139541075)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,530,764	139,537,387	139,541,075
nssv18830944	Submitted genomic		NC_000023.10:g.(?_ 138612923)_(138619 546_138623234)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,612,923	138,619,546	138,623,234

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
nssv18830944	GRCh37: NC_000023.10:g.(?_138612923)_(138619546_138623234)del	deletion	germline	HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease	Pathogenic	ClinVar	RCV000011376.6, VCV000010632.1

No genotype data were submitted for this variant

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