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dbVar

Database of genomic structural variation

nsv6312324

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:134,528

Description:NC_000007.13:g.(?_144245564)_(144380091_?)del 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: 386 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):144,548,471-144,682,998

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312324	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	144,548,471	144,682,998
nsv6312324	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	598,207	680,662
nsv6312324	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	144,245,564	144,380,091

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971620	deletion	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	RCV001958158.5, VCV001444960.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971620	Remapped	Pass	NW_018654715.1:g.( ?_598207)_(680662_ ?)del	GRCh38.p12	Second Pass	NW_018654715.1	Chr7\|NW_01 8654715.1	598,207	680,662
nssv17971620	Remapped	Perfect	NC_000007.14:g.(?_ 144548471)_(144682 998_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	144,548,471	144,682,998
nssv17971620	Submitted genomic		NC_000007.13:g.(?_ 144245564)_(144380 091_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	144,245,564	144,380,091

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
nssv17971620	GRCh37: NC_000007.13:g.(?_144245564)_(144380091_?)del	deletion	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	RCV001958158.5, VCV001444960.5

No genotype data were submitted for this variant

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