A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067005



Internal ID18809536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32710922..32724472hg38UCSC Ensembl
Innerchr18:30290885..30304435hg19UCSC Ensembl
Innerchr18:28544883..28558433hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3813551
hg1913551
hg1813551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3332n100
Supporting Variantsnssv3564179, nssv3564180
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)nsv1067005
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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