A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020517



Internal ID19109736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54029100..54463216hg38UCSC Ensembl
Innerchr5:53324930..53759046hg19UCSC Ensembl
Innerchr5:53360687..53794803hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38434117
hg19434117
hg18434117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5668n100
Supporting Variantsnssv3642134
Samples
Known GenesARL15, HSPB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020517
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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