A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv695n54



Internal ID22768590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190464283..190526877hg38UCSC Ensembl
chr1:190433413..190496007hg19UCSC Ensembl
chr1:188700036..188762630hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3862595
hg1962595
hg1862595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548553, nsv548551
SamplesHGDP00088, HGDP00963
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv695n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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