A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522465



Internal ID22391887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54059289..54059600hg38UCSC Ensembl
chr8:54971849..54972160hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9178n152
Supporting Variantsnssv14342569, nssv14342565, nssv14342568, nssv14342567, nssv14342566
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesLYPLA1
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)nsv3522465
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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