A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3627081



Internal ID18925362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68478882..68674295hg38UCSC Ensembl
Innerchr4:69344600..69540013hg19UCSC Ensembl
Innerchr4:69027195..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38195414
hg19195414
hg18195414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014998
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)nssv3627081
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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