A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706076



Internal ID15442728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65244638..65246247hg38UCSC Ensembl
Innerchr12:65638418..65640027hg19UCSC Ensembl
Innerchr12:63924685..63926294hg18UCSC Ensembl
Innerchr12:63924685..63926294hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381610
hg191610
hg181610
hg171610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522671
Supporting Variants
Samples
Known GenesLEMD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706076
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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