A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020853



Internal ID19110071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76315772..76355961hg38UCSC Ensembl
Innerchr5:75611597..75651786hg19UCSC Ensembl
Innerchr5:75647353..75687542hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3840190
hg1940190
hg1840190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5701n100
Supporting Variantsnssv3747318
Samples
Known GenesSV2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020853
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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