A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056335



Internal ID18798866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32687941..32725877hg38UCSC Ensembl
Innerchr18:30267904..30305840hg19UCSC Ensembl
Innerchr18:28521902..28559838hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3837937
hg1937937
hg1837937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3330n100
Supporting Variantsnssv3564173, nssv3564174
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)nsv1056335
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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