A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4390066



Internal ID21381201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173024193..173024516hg38UCSC Ensembl
chr2:173888921..173889244hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706876
Samples
Known GenesRAPGEF4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4390066
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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