A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021245



Internal ID18763779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169562911..169638181hg38UCSC Ensembl
Innerchr4:170484062..170559332hg19UCSC Ensembl
Innerchr4:170720637..170795907hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3875271
hg1975271
hg1875271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5468n100
Supporting Variantsnssv3744511
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)nsv1021245
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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