A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560753



Internal ID22429550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54378372..54378372hg38UCSC Ensembl
chr16:54412284..54412284hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391246, nssv14376565
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560753
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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