A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv290n54



Internal ID20133714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59584019..59586603hg38UCSC Ensembl
chr1:60049691..60052275hg19UCSC Ensembl
chr1:59822279..59824863hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg382585
hg192585
hg182585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546350, nsv546352
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv290n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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