A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026095



Internal ID18768627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:83040907..83209453hg38UCSC Ensembl
Innerchr6:83750626..83919172hg19UCSC Ensembl
Innerchr6:83807345..83975891hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38168547
hg19168547
hg18168547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648888
Samples
Known GenesDOPEY1, PGM3, RWDD2A, UBE3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026095
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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