A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9866n54



Internal ID20143290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71009869..71038767hg38UCSC Ensembl
chr5:70305696..70334594hg19UCSC Ensembl
chr5:70341452..70370350hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3828899
hg1928899
hg1828899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598609, nsv598601, nsv598588
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9866n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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