A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9835n54



Internal ID22777730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69538215..69551572hg38UCSC Ensembl
chr5:68834042..68847399hg19UCSC Ensembl
chr5:68869798..68883155hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3813358
hg1913358
hg1813358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598435, nsv598433, nsv598434, nsv598443
Samples
Known GenesLOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9835n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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