A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600398



Internal ID16387807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178360514..178394664hg38UCSC Ensembl
Innerchr5:177787515..177821665hg19UCSC Ensembl
Innerchr5:177720121..177754271hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3834151
hg1934151
hg1834151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154732
SamplesHGDP00402
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600398
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer