A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027236



Internal ID18769768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76895111..77118908hg38UCSC Ensembl
Innerchr5:76190936..76414733hg19UCSC Ensembl
Innerchr5:76226692..76450489hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38223798
hg19223798
hg18223798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639044
Samples
Known GenesAGGF1, CRHBP, S100Z, SNORA47, ZBED3, ZBED3-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027236
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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