A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365697



Internal ID22145720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96226489..96226541hg38UCSC Ensembl
chr12:96620267..96620319hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214978
Supporting Variants
SamplesHG00514
Known GenesELK3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365697
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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