A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv70n54



Internal ID22767965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6005263..6006576hg38UCSC Ensembl
chr1:6065323..6066636hg19UCSC Ensembl
chr1:5987910..5989223hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381314
hg191314
hg181314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545203, nsv545197, nsv545201, nsv545202
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv70n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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