A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323425



Internal ID22234821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179737781..179737863hg38UCSC Ensembl
chr5:179164782..179164864hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209227
Supporting Variants
SamplesHG00733
Known GenesMAML1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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