A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066471



Internal ID18809002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32710922..32725877hg38UCSC Ensembl
Innerchr18:30290885..30305840hg19UCSC Ensembl
Innerchr18:28544883..28559838hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3814956
hg1914956
hg1814956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3332n100
Supporting Variantsnssv3564181
Samples
Known GenesKLHL14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066471
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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