A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517167



Internal ID15444460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178238341..178248216hg38UCSC Ensembl
Innerchr5:177665342..177675217hg19UCSC Ensembl
Innerchr5:177597948..177607823hg18UCSC Ensembl
Innerchr5:177597948..177607823hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389876
hg199876
hg189876
hg179876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687162, nssv690245, nssv676239, nssv662864, nssv660216, nssv653911, nssv655673, nssv662497, nssv656846, nssv682966, nssv682333, nssv683173, nssv669124, nssv680021, nssv668113, nssv677177
Samples
Known GenesCOL23A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517167
Frequency
Sample Size2026
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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