A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv294n54



Internal ID20133718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59584477..59586603hg38UCSC Ensembl
chr1:60050149..60052275hg19UCSC Ensembl
chr1:59822737..59824863hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg382127
hg192127
hg182127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546360, nsv546359, nsv546361, nsv546356, nsv546358
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv294n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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