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dbVar

Database of genomic structural variation

nsv7097050

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,335,962

Description:
See descriptions for individual calls in download files
Publication(s):Wortmann et al. 2014

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: 15829 SVs from 126 studies. See in: genome view

Remapped(Score: Perfect):158,111,366-162,447,327

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097050	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	158,111,366	162,447,327
nsv7097050	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	158,532,398	162,868,359

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787894	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003122911.2, VCV002427078.3
nssv18787895	deletion	Multiple	Multiple	3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; MEGDEL syndrome; SERAC1 Deficiency	Pathogenic	ClinVar	RCV003122912.1, VCV002427078.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787894	Remapped	Perfect	NC_000006.12:g.(?_ 158111366)_(162447 327_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	158,111,366	162,447,327
nssv18787895	Remapped	Perfect	NC_000006.12:g.(?_ 158111366)_(162447 327_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	158,111,366	162,447,327
nssv18787894	Submitted genomic		NC_000006.11:g.(?_ 158532398)_(162868 359_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	158,532,398	162,868,359
nssv18787895	Submitted genomic		NC_000006.11:g.(?_ 158532398)_(162868 359_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	158,532,398	162,868,359

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
nssv18787894	GRCh37: NC_000006.11:g.(?_158532398)_(162868359_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003122911.2, VCV002427078.3
nssv18787895	GRCh37: NC_000006.11:g.(?_158532398)_(162868359_?)del	deletion	germline	3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; MEGDEL syndrome; SERAC1 Deficiency	Pathogenic	ClinVar	RCV003122912.1, VCV002427078.3

No genotype data were submitted for this variant

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