A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366440



Internal ID22208513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113187758..113188786hg38UCSC Ensembl
chr12:113625563..113626591hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223964
Supporting Variants
SamplesHG00732
Known GenesC12orf52
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366440
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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