A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303269



Internal ID22321032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:11027650..11028751hg38UCSC Ensembl
chrUn_gl000237:40231..41332hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220321
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303269
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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