A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366385



Internal ID22273268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111933199..111933561hg38UCSC Ensembl
chr12:112371003..112371365hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530000
Supporting Variants
SamplesNA19239
Known GenesTMEM116
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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