Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4578278

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:inversion
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:43,847,817

Description:46,Y,inv(X)(p21.1q13.3) AND Elevated circulating creatine kinase concentration

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: 55580 SVs from 109 studies. See in: genome view

Remapped(Score: Good):32,178,155-76,025,971

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv4578278	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,178,155	76,025,971
nsv4578278	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,196,272	75,245,806

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091732	inversion	Multiple	Multiple	CREATINE PHOSPHOKINASE, ELEVATED SERUM; Elevated circulating creatine kinase concentration; Elevated serum creatine phosphokinase	Likely pathogenic	ClinVar	RCV000856573.1, VCV000694513.1	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv16091732	Remapped	Good	NC_000023.11:g.(32 178155_?)_(?_76025 971)inv	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,178,155	76,025,971
nssv16091732	Submitted genomic		NC_000023.10:g.(32 196272_?)_(?_75245 806)inv	GRCh37 (hg19)		NC_000023.10	ChrX	32,196,272	75,245,806

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	Copy number
nssv16091732	GRCh37: NC_000023.10:g.(32196272_?)_(?_75245806)inv	inversion	unknown	CREATINE PHOSPHOKINASE, ELEVATED SERUM; Elevated circulating creatine kinase concentration; Elevated serum creatine phosphokinase	Likely pathogenic	ClinVar	RCV000856573.1, VCV000694513.1	0

No genotype data were submitted for this variant

You are here: NCBI