A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3629649



Internal ID18927930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509618..68615207hg38UCSC Ensembl
Innerchr4:69375336..69480925hg19UCSC Ensembl
Innerchr4:69057931..69163520hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38105590
hg19105590
hg18105590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007533
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)nssv3629649
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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