A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329112



Internal ID22140706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345528..53345659hg38UCSC Ensembl
chr6:53210326..53210457hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527063
Supporting Variants
SamplesHG00513
Known GenesELOVL5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329112
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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