A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212185



Internal ID22359512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48453376..48459204hg38UCSC Ensembl
chr16:48487287..48493115hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385829
hg195829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380034, nssv14383223, nssv14384857
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212185
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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