A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523309



Internal ID15450602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203450671..203534612hg38UCSC Ensembl
Innerchr2:204315394..204399335hg19UCSC Ensembl
Innerchr2:204023639..204107580hg18UCSC Ensembl
Innerchr2:204140900..204224841hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3883942
hg1983942
hg1883942
hg1783942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699049
Samples
Known GenesRAPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523309
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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