A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290860



Internal ID22296650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24521939..24521939hg38UCSC Ensembl
chr18:22101903..22101903hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560998
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290860
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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