A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9859n54



Internal ID20143283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70942497..71168599hg38UCSC Ensembl
chr5:70238324..70464426hg19UCSC Ensembl
chr5:70274080..70500182hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38226103
hg19226103
hg18226103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598557, nsv598569
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9859n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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