A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282085



Internal ID22297847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68552656..68552980hg38UCSC Ensembl
chr17:66548797..66549121hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523349
Supporting Variants
SamplesNA19240
Known GenesFAM20A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282085
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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