A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8652n54



Internal ID20142076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151792469..151833340hg38UCSC Ensembl
chr3:151510257..151551128hg19UCSC Ensembl
chr3:152992947..153033818hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3840872
hg1940872
hg1840872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592054, nsv592049, nsv592057, nsv592059, nsv592053, nsv592052, nsv592065, nsv592058, nsv592067, nsv592046, nsv592066, nsv592060
Samples1798860306_A, NINDS_113, 1798860292_A, NINDS_251, 1780854354_A, 1780854295_A, 1780854058_A, HGDP01373, NINDS_240, 1780854573_A
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8652n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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