A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018482



Internal ID18761015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:192727..276085hg38UCSC Ensembl
Innerchr5:192842..276200hg19UCSC Ensembl
Innerchr5:245842..329200hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3883359
hg1983359
hg1883359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633214
Samples
Known GenesCCDC127, LOC102467073, LRRC14B, PDCD6, SDHA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018482
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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