A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010189



Internal ID18752720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39423149..39523510hg38UCSC Ensembl
Innerchr4:39424769..39525130hg19UCSC Ensembl
Innerchr4:39101164..39201525hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38100362
hg19100362
hg18100362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625033
Samples
Known GenesKLB, LIAS, LOC401127, MIR1273H, RPL9, UGDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010189
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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