A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522290



Internal ID15102897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74941247..75120843hg38UCSC Ensembl
Innerchr12:75335027..75514623hg19UCSC Ensembl
Innerchr12:73621294..73800890hg18UCSC Ensembl
Innerchr12:73621294..73800890hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38179597
hg19179597
hg18179597
hg17179597
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695072
Samples
Known GenesKCNC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522290
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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