A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526188



Internal ID15106795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35576541..36019079hg38UCSC Ensembl
Innerchr20:34164463..34607001hg19UCSC Ensembl
Innerchr20:33627877..34070415hg18UCSC Ensembl
Innerchr20:33627877..34070415hg17UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38442539
hg19442539
hg18442539
hg17442539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702450
Samples
Known GenesCNBD2, CPNE1, NFS1, PHF20, RBM12, RBM39, ROMO1, SCAND1, SPAG4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526188
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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