A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002729



Internal ID19091946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509618..68615992hg38UCSC Ensembl
Innerchr4:69375336..69481710hg19UCSC Ensembl
Innerchr4:69057931..69164305hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38106375
hg19106375
hg18106375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5261n100
Supporting Variantsnssv3629650, nssv3629651
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)nsv1002729
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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