A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516550



Internal ID15443843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94338818..94496272hg38UCSC Ensembl
Innerchr12:94732594..94890048hg19UCSC Ensembl
Innerchr12:93256725..93414179hg18UCSC Ensembl
Innerchr12:93235062..93392516hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38157455
hg19157455
hg18157455
hg17157455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658145, nssv669091
Samples
Known GenesCCDC41, CCDC41-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516550
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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