A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518120



Internal ID15098727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93391744..93393808hg38UCSC Ensembl
Innerchr12:93785520..93787584hg19UCSC Ensembl
Innerchr12:92309651..92311715hg18UCSC Ensembl
Innerchr12:92287988..92290052hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382065
hg192065
hg182065
hg172065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694203
Samples
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518120
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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