A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv729n100



Internal ID20152345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44700093..44878497hg38UCSC Ensembl
chr10:45195541..45373945hg19UCSC Ensembl
chr10:44515547..44693951hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38178405
hg19178405
hg18178405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054327, nsv1054495, nsv1051373, nsv1037692, nsv1054383, nsv1039167, nsv1035889, nsv1052669, nsv1046822, nsv1050711, nsv1052977, nsv1047203, nsv1044334, nsv1045529, nsv1051658, nsv1042590, nsv1035943, nsv1046534, nsv1054802
Samples
Known GenesTMEM72-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv729n100
Frequency
Sample Size29084
Observed Gain133
Observed Loss0
Observed Complex0
Frequencyn/a


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