A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221304



Internal ID22365733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75674913..75675305hg38UCSC Ensembl
chr16:75708811..75709203hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382539, nssv14374900, nssv14374360, nssv14390478, nssv14377447, nssv14382900, nssv14390511
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221304
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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