A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9863n54



Internal ID20143287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70995423..71121903hg38UCSC Ensembl
chr5:70291250..70417730hg19UCSC Ensembl
chr5:70327006..70453486hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38126481
hg19126481
hg18126481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598572, nsv598607, nsv598581, nsv598577
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)dgv9863n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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