A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv347n54



Internal ID20133771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85197168..85201703hg38UCSC Ensembl
chr1:85662851..85667386hg19UCSC Ensembl
chr1:85435439..85439974hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384536
hg194536
hg184536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546701, nsv546702
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv347n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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