A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293457



Internal ID22160360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132933093..133106142hg38UCSC Ensembl
chr2:133690666..133863715hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38173050
hg19173050
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247897
Supporting Variants
SamplesHG00514
Known GenesMIR7853, NCKAP5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293457
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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