A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600424



Internal ID16387833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178471649..178534859hg38UCSC Ensembl
Innerchr5:177898650..177961860hg19UCSC Ensembl
Innerchr5:177831256..177894466hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3863211
hg1963211
hg1863211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154734
SamplesHGDP00479
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600424
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