A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523105



Internal ID15103712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69419384..69477833hg38UCSC Ensembl
Innerchr18:67086620..67145069hg19UCSC Ensembl
Innerchr18:65237600..65296049hg18UCSC Ensembl
Innerchr18:65237600..65296049hg17UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3858450
hg1958450
hg1858450
hg1758450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698801
Samples
Known GenesDOK6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523105
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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