A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10029n54



Internal ID22777924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116204344..116273855hg38UCSC Ensembl
chr5:115540041..115609552hg19UCSC Ensembl
chr5:115567940..115637451hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3869512
hg1969512
hg1869512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599482, nsv599481
SamplesNINDS_23
Known GenesCOMMD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10029n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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