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dbVar

Database of genomic structural variation

nsv6315223

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:159,283,658

Description:Single allele AND Ring chromosome 7

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: 452963 SVs from 152 studies. See in: genome view

Remapped(Score: Good):43,360-159,327,017

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315223	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	43,360	159,327,017
nsv6315223	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	43,360	159,119,707

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976979	complex substitution	Multiple	Multiple	Ring chromosome 7	Pathogenic	ClinVar	RCV002280646.1, VCV001703560.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976979	Remapped	Good	GRCh38.p12	First Pass	NC_000007.14	Chr7	43,360	159,327,017
nssv17976979	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	43,360	159,119,707

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976979	complex substitution	unknown	Ring chromosome 7	Pathogenic	ClinVar	RCV002280646.1, VCV001703560.1

No genotype data were submitted for this variant

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