A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999710



Internal ID18812560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68394343..68620249hg38UCSC Ensembl
Innerchr4:69260061..69485967hg19UCSC Ensembl
Innerchr4:68942656..69168562hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38225907
hg19225907
hg18225907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5243n100
Supporting Variantsnssv3626815, nssv3626813, nssv3626812, nssv3626814, nssv3740204
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)nsv999710
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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