A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639044



Internal ID18590639
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 StatusS
Merged Variantsnsv1027236
Supporting Variants
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)nssv3639044
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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