A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv605n54



Internal ID20134029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161533359..161671187hg38UCSC Ensembl
chr1:161503149..161640977hg19UCSC Ensembl
chr1:159769773..159907601hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38137829
hg19137829
hg18137829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548062, nsv548063
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv605n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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