A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv255n54



Internal ID22768150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43871718..43879620hg38UCSC Ensembl
chr1:44337390..44345292hg19UCSC Ensembl
chr1:44109977..44117879hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg387903
hg197903
hg187903
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546137, nsv546138
Samples
Known GenesST3GAL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv255n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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