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dbVar

Database of genomic structural variation

nsv7137189

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:6,272

Description:NC_000023.11:g.(?_139530738)_(139530853_139537
009)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: 120 SVs from 25 studies. See in: genome view

Submitted genomic139,530,738-139,537,009

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv7137189	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	139,530,738	139,530,853	139,537,009
nsv7137189	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	138,612,897	138,613,012	138,619,168

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830943	deletion	Multiple	Multiple	HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease	Pathogenic	ClinVar	RCV000011375.4, VCV000010631.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv18830943	Submitted genomic		NC_000023.11:g.(?_ 139530738)_(139530 853_139537009)del	GRCh38 (hg38)		NC_000023.11	ChrX	139,530,738	139,530,853	139,537,009
nssv18830943	Remapped	Perfect	NC_000023.10:g.(?_ 138612897)_(138613 012_138619168)del	GRCh37.p13	First Pass	NC_000023.10	ChrX	138,612,897	138,613,012	138,619,168

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
nssv18830943	GRCh38: NC_000023.11:g.(?_139530738)_(139530853_139537009)del	deletion	germline	HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease	Pathogenic	ClinVar	RCV000011375.4, VCV000010631.1

No genotype data were submitted for this variant

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