A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520672



Internal ID22390080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91209468..91209806hg38UCSC Ensembl
chr10:92969225..92969563hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1011n152
Supporting Variantsnssv14355624, nssv14355620, nssv14355623, nssv14355622, nssv14355618, nssv14355621, nssv14355626, nssv14355625, nssv14355619
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPCGF5
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)nsv3520672
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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