A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518790



Internal ID15099397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178098718..178135564hg38UCSC Ensembl
Innerchr2:178963445..179000291hg19UCSC Ensembl
Innerchr2:178671691..178708537hg18UCSC Ensembl
Innerchr2:178788952..178825798hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3836847
hg1936847
hg1836847
hg1736847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696243
Samples
Known GenesPDE11A, RBM45
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518790
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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