A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181678



Internal ID22336700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69884931..69885234hg38UCSC Ensembl
chr13:70459063..70459366hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14369793, nssv14369792
SamplesNA19239, NA19240
Known GenesKLHL1
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)nsv3181678
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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