A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293517



Internal ID22311342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133925022..133925114hg38UCSC Ensembl
chr2:134682593..134682685hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198841
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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