A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285602



Internal ID22200488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63264905..63264905hg38UCSC Ensembl
chr18:60932138..60932138hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561026
Supporting Variants
SamplesHG00732
Known GenesBCL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285602
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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