A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283384



Internal ID22272142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35954154..35954154hg38UCSC Ensembl
chr18:33534117..33534117hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561486
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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