A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065443



Internal ID18807974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80190452..80257174hg38UCSC Ensembl
Innerchr18:77948335..78015057hg19UCSC Ensembl
Innerchr18:76049326..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3866723
hg1966723
hg1866704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3416n100
Supporting Variantsnssv3563106
Samples
Known GenesPARD6G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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