A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv75n54



Internal ID18992251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6081265..6144206hg38UCSC Ensembl
chr1:6141325..6204266hg19UCSC Ensembl
chr1:6063912..6126853hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3862942
hg1962942
hg1862942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545231, nsv545230
Samples
Known GenesCHD5, KCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv75n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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