A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017356



Internal ID18759891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798710..14182441hg38UCSC Ensembl
Innerchr5:13798819..14182550hg19UCSC Ensembl
Innerchr5:13851819..14235550hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38383732
hg19383732
hg18383732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5577n100
Supporting Variantsnssv3638294
Samples
Known GenesDNAH5, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017356
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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