A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330386



Internal ID22115952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:10451446..10451766hg38UCSC Ensembl
chr10:10493409..10493729hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520532
Supporting Variants
SamplesHG00512
Known Genes
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)nssv14330386
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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