A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283365



Internal ID22288681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34904140..34904140hg38UCSC Ensembl
chr18:32484104..32484104hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561003
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283365
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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