A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5692n100



Internal ID20157308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64578799..64749903hg38UCSC Ensembl
chr5:63874626..64045730hg19UCSC Ensembl
chr5:63910382..64081486hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38171105
hg19171105
hg18171105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017416, nsv1023142
Samples
Known GenesFAM159B, RGS7BP, SREK1IP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5692n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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