A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522260



Internal ID15102867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78312540..79523465hg38UCSC Ensembl
Innerchr2:78539666..79750591hg19UCSC Ensembl
Innerchr2:78393174..79604099hg18UCSC Ensembl
Innerchr2:78451321..79662246hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg381210926
hg191210926
hg181210926
hg171210926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695040
Samples
Known GenesCTNNA2, REG1A, REG1B, REG1P, REG3A, REG3G
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522260
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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