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dbVar

Database of genomic structural variation

nsv7098146

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:300,935

Description:NC_000007.13:g.(?_98478774)_(98779708_?)dup AND not provided

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: 838 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):98,881,151-99,182,085

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098146	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	98,881,151	99,182,085
nsv7098146	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	98,478,774	98,779,708

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791676	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003105579.2, VCV002423885.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791676	Remapped	Perfect	NC_000007.14:g.(?_ 98881151)_(9918208 5_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	98,881,151	99,182,085
nssv18791676	Submitted genomic		NC_000007.13:g.(?_ 98478774)_(9877970 8_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	98,478,774	98,779,708

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
nssv18791676	GRCh37: NC_000007.13:g.(?_98478774)_(98779708_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003105579.2, VCV002423885.3

No genotype data were submitted for this variant

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