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dbVar

Database of genomic structural variation

nsv5673906

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:162

Description:NC_000023.10:g.(?_138612860)_(138613021_?)del AND multiple conditions
Publication(s):Collins et al. 2012, Jenkins et al. 2012, Konkle et al. 2000

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: 105 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):139,530,701-139,530,862

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673906	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	139,530,701	139,530,862
nsv5673906	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	138,612,860	138,613,021

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171470	deletion	Multiple	Multiple	HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease; THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8; Thrombophilia, X-linked, due to factor IX defect	Pathogenic	ClinVar	RCV001383538.5, VCV001071157.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171470	Remapped	Perfect	NC_000023.11:g.(?_ 139530701)_(139530 862_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,530,701	139,530,862
nssv17171470	Submitted genomic		NC_000023.10:g.(?_ 138612860)_(138613 021_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,612,860	138,613,021

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
nssv17171470	GRCh37: NC_000023.10:g.(?_138612860)_(138613021_?)del	deletion	germline	HEMOPHILIA B; HEMB; Hemophilia B; Hemophilia B; Hemophilia B; Hereditary factor IX deficiency disease; THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8; Thrombophilia, X-linked, due to factor IX defect	Pathogenic	ClinVar	RCV001383538.5, VCV001071157.5

No genotype data were submitted for this variant

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