A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700836



Internal ID15437488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:107639711..107651615hg38UCSC Ensembl
Innerchr12:108033488..108045392hg19UCSC Ensembl
Innerchr12:106557618..106569522hg18UCSC Ensembl
Innerchr12:106535955..106547859hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3811905
hg1911905
hg1811905
hg1711905
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524835
Supporting Variants
Samples
Known GenesBTBD11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700836
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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