A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3743422



Internal ID18695017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509211..68615207hg38UCSC Ensembl
Innerchr4:69374929..69480925hg19UCSC Ensembl
Innerchr4:69057524..69163520hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38105997
hg19105997
hg18105997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013369
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3743422
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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