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dbVar

Database of genomic structural variation

nsv6309121

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:1,760,913

Description:
See descriptions for individual calls in download files
Publication(s):Forsythe et al. 2003, Martín et al. 2006, Styne et al. 2017

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: 5195 SVs from 106 studies. See in: genome view

Remapped(Score: Perfect):64,755,311-66,516,223

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309121	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	64,755,311	66,516,223
nsv6309121	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	64,522,783	66,283,694

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973171	deletion	Multiple	Multiple	GLYCOGEN STORAGE DISEASE V; GSD5; Glycogen Storage Disease Type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; Glycogen storage disease, type V	Pathogenic	ClinVar	RCV002004587.3, VCV001449359.6
nssv17973369	deletion	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV002014493.5, VCV001449359.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973171	Remapped	Perfect	NC_000011.10:g.(?_ 64755311)_(6651622 3_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	64,755,311	66,516,223
nssv17973369	Remapped	Perfect	NC_000011.10:g.(?_ 64755311)_(6651622 3_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	64,755,311	66,516,223
nssv17973171	Submitted genomic		NC_000011.9:g.(?_6 4522783)_(66283694 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	64,522,783	66,283,694
nssv17973369	Submitted genomic		NC_000011.9:g.(?_6 4522783)_(66283694 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	64,522,783	66,283,694

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
nssv17973171	GRCh37: NC_000011.9:g.(?_64522783)_(66283694_?)del	deletion	germline	GLYCOGEN STORAGE DISEASE V; GSD5; Glycogen Storage Disease Type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; Glycogen storage disease, type V	Pathogenic	ClinVar	RCV002004587.3, VCV001449359.6
nssv17973369	GRCh37: NC_000011.9:g.(?_64522783)_(66283694_?)del	deletion	germline	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV002014493.5, VCV001449359.6

No genotype data were submitted for this variant

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