A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364965



Internal ID22132940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93364928..93365292hg38UCSC Ensembl
chr12:93758704..93759068hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230216
Supporting Variants
SamplesHG00513
Known GenesLOC643339
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364965
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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