A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv669091



Internal ID15405743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94338818..94488424hg38UCSC Ensembl
Innerchr12:94732594..94882200hg19UCSC Ensembl
Innerchr12:93256725..93406331hg18UCSC Ensembl
Innerchr12:93235062..93384668hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38149607
hg19149607
hg18149607
hg17149607
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516550
Supporting Variants
Samples
Known GenesCCDC41, CCDC41-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv669091
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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