A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5781n54



Internal ID20139205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76384705..76385486hg38UCSC Ensembl
chr17:74380786..74381567hg19UCSC Ensembl
chr17:71892381..71893162hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38782
hg19782
hg18782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv576057, nsv576056
Samples
Known GenesSPHK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5781n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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