A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998004



Internal ID19157541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509211..68620110hg38UCSC Ensembl
Innerchr4:69374929..69485828hg19UCSC Ensembl
Innerchr4:69057524..69168423hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38110900
hg19110900
hg18110900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5261n100
Supporting Variantsnssv3743454
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)nsv998004
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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