A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5293n54



Internal ID20138717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88387351..88485962hg38UCSC Ensembl
chr16:88453759..88552370hg19UCSC Ensembl
chr16:86981260..87079871hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3898612
hg1998612
hg1898612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573585, nsv573586
SamplesHGDP01048
Known GenesMIR5189, ZFPM1, ZNF469
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5293n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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