A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375278



Internal ID22160422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64026557..64026557hg38UCSC Ensembl
chr17:62103917..62103917hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560973
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375278
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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