A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9773n54



Internal ID22777668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50692186..50766777hg38UCSC Ensembl
chr5:49988020..50062611hg19UCSC Ensembl
chr5:50023777..50098368hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3874592
hg1974592
hg1874592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598109, nsv598111, nsv598112
SamplesNINDS_142, HGDP00771
Known GenesPARP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9773n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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