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dbVar

Database of genomic structural variation

nsv3879018

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:98,093

Description:Single allele 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: 407 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):10,021,782-10,119,874

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3879018	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	10,021,782	10,119,874
nsv3879018	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	10,132,458	10,230,550

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151654	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000677920.2, VCV000560043.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15151654	Remapped	Perfect	NC_000019.10:g.100 21782_10119874dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,021,782	10,119,874
nssv15151654	Submitted genomic		NC_000019.9:g.1013 2458_10230550dup	GRCh37 (hg19)		NC_000019.9	Chr19	10,132,458	10,230,550

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	Copy number
nssv15151654	GRCh37: NC_000019.9:g.10132458_10230550dup	duplication	de novo	not provided	Uncertain significance	ClinVar	RCV000677920.2, VCV000560043.2	3

No genotype data were submitted for this variant

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