A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516276



Internal ID15096883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204431655..204434531hg38UCSC Ensembl
Innerchr1:204400783..204403659hg19UCSC Ensembl
Innerchr1:202667406..202670282hg18UCSC Ensembl
Innerchr1:201132440..201135316hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382877
hg192877
hg182877
hg172877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667277, nssv659349, nssv662853, nssv685629
Samples
Known GenesPIK3C2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516276
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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