A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523730



Internal ID22393158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72719393..72719698hg38UCSC Ensembl
chr16:72753292..72753597hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3275n152
Supporting Variantsnssv14385122, nssv14381963, nssv14380621, nssv14390014, nssv14378553, nssv14391360, nssv14382456, nssv14373650, nssv14374062
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523730
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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