A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999343



Internal ID19158879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68468411..68592208hg38UCSC Ensembl
Innerchr4:69334129..69457926hg19UCSC Ensembl
Innerchr4:69016724..69140521hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38123798
hg19123798
hg18123798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5254n100
Supporting Variantsnssv3627062, nssv3627063
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999343
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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