A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000833



Internal ID19090050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68439209..68604404hg38UCSC Ensembl
Innerchr4:69304927..69470122hg19UCSC Ensembl
Innerchr4:68987522..69152717hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38165196
hg19165196
hg18165196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3627040
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)nsv1000833
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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