A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561247



Internal ID22430028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8957114..8957114hg38UCSC Ensembl
chr18:8957112..8957112hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289879
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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