A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014329



Internal ID19103550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509211..68602821hg38UCSC Ensembl
Innerchr4:69374929..69468539hg19UCSC Ensembl
Innerchr4:69057524..69151134hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3893611
hg1993611
hg1893611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5266n100
Supporting Variantsnssv3627709, nssv3627708
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)nsv1014329
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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