A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999516



Internal ID19159053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68429069..68564420hg38UCSC Ensembl
Innerchr4:69294787..69430138hg19UCSC Ensembl
Innerchr4:68977382..69112733hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38135352
hg19135352
hg18135352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5248n100
Supporting Variantsnssv3626911, nssv3626912
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)nsv999516
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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