A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9834n54



Internal ID20143258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69534241..69613796hg38UCSC Ensembl
chr5:68830068..68909623hg19UCSC Ensembl
chr5:68865824..68945379hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3879556
hg1979556
hg1879556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598431, nsv598441, nsv598432, nsv598442, nsv598428
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9834n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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