A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020051



Internal ID18762586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80559891..80583951hg38UCSC Ensembl
Innerchr5:79855710..79879770hg19UCSC Ensembl
Innerchr5:79891466..79915526hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3824061
hg1924061
hg1824061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5707n100
Supporting Variantsnssv3639120, nssv3639118, nssv3639119
Samples
Known GenesANKRD34B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020051
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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