A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5636n54



Internal ID20139060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46186679..46203331hg38UCSC Ensembl
chr17:44264045..44280697hg19UCSC Ensembl
chr17:41619822..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3816653
hg1916653
hg1816653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575224, nsv575229, nsv575221
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5636n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer