A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560973



Internal ID22429768
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390424, nssv14379569, nssv14383007, nssv14375278
SamplesHG00512, NA19239, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560973
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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