A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065064



Internal ID18807595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79091898..79405383hg38UCSC Ensembl
Innerchr18:76851898..77165383hg19UCSC Ensembl
Innerchr18:74952886..75266371hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38313486
hg19313486
hg18313486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3563061
Samples
Known GenesATP9B, NFATC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065064
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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