A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600091



Internal ID16387500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:155109833..155144350hg38UCSC Ensembl
Innerchr5:154489393..154523910hg19UCSC Ensembl
Innerchr5:154469586..154504103hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3834518
hg1934518
hg1834518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153375
SamplesHGDP00790
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600091
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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