A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324325



Internal ID22139291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150366628..150366953hg38UCSC Ensembl
chr5:149746191..149746516hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523394
Supporting Variants
SamplesHG00513
Known GenesTCOF1
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)nssv14324325
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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