A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301427



Internal ID22135851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43323464..43323464hg38UCSC Ensembl
chr20:41952104..41952104hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562357
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301427
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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