A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581621



Internal ID18533216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45706491..45786214hg38UCSC Ensembl
Innerchr2:45933630..46013353hg19UCSC Ensembl
Innerchr2:45787134..45866857hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3879724
hg1979724
hg1879724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008226
Supporting Variants
Samples
Known GenesPRKCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581621
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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