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dbVar

Database of genomic structural variation

nsv6634301

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:42,924,127

Description:Single allele AND See cases

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: 144215 SVs from 146 studies. See in: genome view

Remapped(Score: Good):208,048-43,132,174

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6634301	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	208,048	208,048	43,132,174	43,132,174
nsv6634301	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	158,048	6,999,114	11,935,023	42,987,317

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326354	complex substitution	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV002292428.1, VCV001711134.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326354	Remapped	Good	GRCh38.p12	First Pass	NC_000008.11	Chr8	208,048	208,048	43,132,174	43,132,174
nssv18326354	Submitted genomic		GRCh37 (hg19)		NC_000008.10	Chr8	158,048	6,999,114	11,935,023	42,987,317

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
nssv18326354	complex substitution	unknown	See cases	Pathogenic	ClinVar	RCV002292428.1, VCV001711134.1

No genotype data were submitted for this variant

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