A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058812



Internal ID18801343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66417321..66663853hg38UCSC Ensembl
Innerchr18:64084558..64331090hg19UCSC Ensembl
Innerchr18:62235538..62482070hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38246533
hg19246533
hg18246533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3381n100
Supporting Variantsnssv3565653, nssv3565652
Samples
Known GenesCDH19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058812
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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