A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562099



Internal ID22430861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40563539..40563539hg38UCSC Ensembl
chr21:41935466..41935466hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14302746, nssv14302744, nssv14302745
SamplesHG00512, NA19238, HG00731
Known GenesDSCAM
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562099
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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