A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9781n54



Internal ID22777676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51981695..52093054hg38UCSC Ensembl
chr5:51277529..51388888hg19UCSC Ensembl
chr5:51313286..51424645hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38111360
hg19111360
hg18111360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598148, nsv598147
SamplesNINDS_94, 1780854449_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9781n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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