A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235108



Internal ID22373207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27207151..27224681hg38UCSC Ensembl
Outerchr17:25534177..25551707hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261315
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235108
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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