A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528151



Internal ID15455444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93430621..93433468hg38UCSC Ensembl
Innerchr12:93824397..93827244hg19UCSC Ensembl
Innerchr12:92348528..92351375hg18UCSC Ensembl
Innerchr12:92326865..92329712hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382848
hg192848
hg182848
hg172848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704698
Samples
Known GenesUBE2N
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528151
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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