A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483123



Internal ID15235597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172891889..173048776hg38UCSC Ensembl
Innerchr2:173756617..173913504hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38156888
hg19156888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996129
Samples
Known GenesRAPGEF4
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483123
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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