A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067422



Internal ID18809953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66506724..66611261hg38UCSC Ensembl
Innerchr18:64173961..64278498hg19UCSC Ensembl
Innerchr18:62324941..62429478hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38104538
hg19104538
hg18104538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3382n100
Supporting Variantsnssv3565655
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)nsv1067422
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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