A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv71n54



Internal ID22767966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6005366..6006039hg38UCSC Ensembl
chr1:6065426..6066099hg19UCSC Ensembl
chr1:5988013..5988686hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38674
hg19674
hg18674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545200, nsv545198
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv71n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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