A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3740238



Internal ID19038519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68655679hg38UCSC Ensembl
Innerchr4:69294787..69521397hg19UCSC Ensembl
Innerchr4:68977382..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38226611
hg19226611
hg18226611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003200
Supporting Variants
Samples
Known GenesTMPRSS11E, UGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3740238
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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