A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9569n54



Internal ID22777464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8701254..8748515hg38UCSC Ensembl
chr5:8701366..8748627hg19UCSC Ensembl
chr5:8754366..8801627hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3847262
hg1947262
hg1847262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597047, nsv597055, nsv597058, nsv597046, nsv597057, nsv597033, nsv597045, nsv597060, nsv597035, nsv597036, nsv597048, nsv597032, nsv597054, nsv597059, nsv597031, nsv597037, nsv597044
SamplesHGDP01273, 1788485381_A, NINDS_132, HGDP00515
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9569n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss193
Observed Complex0
Frequencyn/a


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