A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv65n54



Internal ID18992241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6005052..6005754hg38UCSC Ensembl
chr1:6065112..6065814hg19UCSC Ensembl
chr1:5987699..5988401hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38703
hg19703
hg18703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545177, nsv545176, nsv545178
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv65n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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