A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009200



Internal ID19098418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68618379hg38UCSC Ensembl
Innerchr4:69294787..69484097hg19UCSC Ensembl
Innerchr4:68977382..69166692hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38189311
hg19189311
hg18189311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3740231, nssv3626941, nssv3626940
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)nsv1009200
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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