A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020345



Internal ID18762880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169562911..169634773hg38UCSC Ensembl
Innerchr4:170484062..170555924hg19UCSC Ensembl
Innerchr4:170720637..170792499hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3871863
hg1971863
hg1871863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5468n100
Supporting Variantsnssv3744510
Samples
Known GenesCLCN3, NEK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020345
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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