A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012899



Internal ID19102116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68422408..68674295hg38UCSC Ensembl
Innerchr4:69288126..69540013hg19UCSC Ensembl
Innerchr4:68970721..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38251888
hg19251888
hg18251888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5251n100
Supporting Variantsnssv3626898, nssv3626897, nssv3626900, nssv3626899, nssv3626901
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)nsv1012899
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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