A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520322



Internal ID15447615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179975766..180102852hg38UCSC Ensembl
Innerchr1:179944901..180071987hg19UCSC Ensembl
Innerchr1:178211524..178338610hg18UCSC Ensembl
Innerchr1:176676558..176803644hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38127087
hg19127087
hg18127087
hg17127087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662917, nssv689825, nssv692308
Samples
Known GenesCEP350
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520322
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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