A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003655



Internal ID19092873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68548042..68623605hg38UCSC Ensembl
Innerchr4:69413760..69489323hg19UCSC Ensembl
Innerchr4:69096355..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3875564
hg1975564
hg1875564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5276n100
Supporting Variantsnssv3630883, nssv3630880, nssv3630881, nssv3630882, nssv3630884
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003655
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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