A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224869



Internal ID22368175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88646280..88646336hg38UCSC Ensembl
chr16:88712688..88712744hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381271, nssv14380278, nssv14382845, nssv14374560, nssv14390560, nssv14376586, nssv14375202
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesCYBA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224869
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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