A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600395



Internal ID16387804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178248216..178280426hg38UCSC Ensembl
Innerchr5:177675217..177707427hg19UCSC Ensembl
Innerchr5:177607823..177640033hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3832211
hg1932211
hg1832211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10190n54
Supporting Variantsnssv1045764
Samples
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600395
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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