A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005837



Internal ID18748368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68468411..68623605hg38UCSC Ensembl
Innerchr4:69334129..69489323hg19UCSC Ensembl
Innerchr4:69016724..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38155195
hg19155195
hg18155195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5253n100
Supporting Variantsnssv3627065
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)nsv1005837
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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