A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9836n54



Internal ID22777731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69538215..69555714hg38UCSC Ensembl
chr5:68834042..68851541hg19UCSC Ensembl
chr5:68869798..68887297hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817500
hg1917500
hg1817500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598436, nsv598451, nsv598438, nsv598437
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)dgv9836n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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