A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295083



Internal ID22222823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207645319..207645513hg38UCSC Ensembl
chr2:208510043..208510237hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557363
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295083
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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