A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302186



Internal ID22139151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12431470..12433788hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382319
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227386
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302186
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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