A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301224



Internal ID22260130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5240059..5244108hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg384050
Variant TypeCNV duplication
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229690
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301224
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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