A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326458



Internal ID22140081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42408267..42408267hg38UCSC Ensembl
chr6:42376005..42376005hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564370
Supporting Variants
SamplesHG00513
Known GenesTRERF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14326458
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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