A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680013



Internal ID15416665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6839304..6839718hg38UCSC Ensembl
Innerchr12:6948468..6948882hg19UCSC Ensembl
Innerchr12:6818729..6819143hg18UCSC Ensembl
Innerchr12:6818729..6819143hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38415
hg19415
hg18415
hg17415
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516726
Supporting Variants
Samples
Known GenesLEPREL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680013
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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