A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv43n54



Internal ID22767938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1978932..1979778hg38UCSC Ensembl
chr1:1910371..1911217hg19UCSC Ensembl
chr1:1900231..1901077hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38847
hg19847
hg18847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545043, nsv545042
Samples
Known GenesKIAA1751
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv43n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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