A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9522n54



Internal ID20142946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1009968..1190946hg38UCSC Ensembl
chr5:1010083..1191061hg19UCSC Ensembl
chr5:1063083..1244061hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38180979
hg19180979
hg18180979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596804, nsv596802
SamplesHGDP00788
Known GenesMIR4635, NKD2, SLC12A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9522n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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