A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299948



Internal ID22121025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35226721..35226721hg38UCSC Ensembl
chr20:33814524..33814524hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561873
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299948
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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