A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9868n54



Internal ID20143292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71009869..71098321hg38UCSC Ensembl
chr5:70305696..70394148hg19UCSC Ensembl
chr5:70341452..70429904hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3888453
hg1988453
hg1888453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598605, nsv598592, nsv598612, nsv598598, nsv598606
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9868n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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