A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9840n54



Internal ID19002016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69582224..69615334hg38UCSC Ensembl
chr5:68878051..68911161hg19UCSC Ensembl
chr5:68913807..68946917hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3833111
hg1933111
hg1833111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598461, nsv598463
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9840n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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