A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017648



Internal ID18760182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169556300..169638988hg38UCSC Ensembl
Innerchr4:170477451..170560139hg19UCSC Ensembl
Innerchr4:170714026..170796714hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3882689
hg1982689
hg1882689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5468n100
Supporting Variantsnssv3635380
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)nsv1017648
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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