A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10056n54



Internal ID22777951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121600538..121696680hg38UCSC Ensembl
chr5:120936233..121032375hg19UCSC Ensembl
chr5:120964132..121060274hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3896143
hg1996143
hg1896143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599620, nsv599621, nsv599622
Samples1780846321_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10056n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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