A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524447



Internal ID15105054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178539801..178638481hg38UCSC Ensembl
Innerchr3:178257589..178356269hg19UCSC Ensembl
Innerchr3:179740283..179838963hg18UCSC Ensembl
Innerchr3:179740291..179838971hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3898681
hg1998681
hg1898681
hg1798681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700380
Samples
Known GenesKCNMB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524447
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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