A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv96n21



Internal ID20131817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57139199..57243810hg38UCSC Ensembl
chr12:57532982..57637593hg19UCSC Ensembl
chr12:55819249..55923860hg18UCSC Ensembl
chr12:55819249..55923860hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38104612
hg19104612
hg18104612
hg17104612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv518980, nsv525873
Samples
Known GenesLRP1, MIR1228, NDUFA4L2, NXPH4, SHMT2, STAC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv96n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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