A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14355468



Internal ID22209771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18378060..18524928hg38UCSC Ensembl
chr11:18399607..18546475hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38146869
hg19146869
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226725
Supporting Variants
SamplesHG00732
Known GenesLDHA, LDHAL6A, LDHC, TSG101
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14355468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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