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dbVar

Database of genomic structural variation

nsv6312532

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:56,444

Description:NC_000007.13:g.(?_144094333)_(144150776_?)dup AND Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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: 223 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):144,397,240-144,453,683

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312532	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	144,397,240	144,453,683
nsv6312532	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	446,707	503,140
nsv6312532	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	144,094,333	144,150,776

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973057	duplication	Multiple	Multiple	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency; THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	Uncertain significance	ClinVar	RCV001997497.3, VCV001449333.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973057	Remapped	Good	NW_018654715.1:g.( ?_446707)_(503140_ ?)dup	GRCh38.p12	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	446,707	503,140
nssv17973057	Remapped	Perfect	NC_000007.14:g.(?_ 144397240)_(144453 683_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	144,397,240	144,453,683
nssv17973057	Submitted genomic		NC_000007.13:g.(?_ 144094333)_(144150 776_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	144,094,333	144,150,776

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
nssv17973057	GRCh37: NC_000007.13:g.(?_144094333)_(144150776_?)dup	duplication	germline	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency; THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	Uncertain significance	ClinVar	RCV001997497.3, VCV001449333.4

No genotype data were submitted for this variant

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