A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032352



Internal ID19121574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54031340..54467143hg38UCSC Ensembl
Innerchr5:53327170..53762973hg19UCSC Ensembl
Innerchr5:53362927..53798730hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38435804
hg19435804
hg18435804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5668n100
Supporting Variantsnssv3642135, nssv3745981
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)nsv1032352
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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