A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9496n54



Internal ID22777391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:560808..618471hg38UCSC Ensembl
chr5:560923..618586hg19UCSC Ensembl
chr5:613923..671586hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3857664
hg1957664
hg1857664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596707, nsv596705
SamplesHGDP00187, HGDP00011
Known GenesCEP72, LOC100996325
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9496n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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