A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5608n54



Internal ID22773503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44353748..44355211hg38UCSC Ensembl
chr17:42431116..42432579hg19UCSC Ensembl
chr17:39786642..39788105hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381464
hg191464
hg181464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575096, nsv575095, nsv575097, nsv575093, nsv575092
Samples
Known GenesFAM171A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5608n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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