A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233909



Internal ID22372874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77610625..77648403hg38UCSC Ensembl
Outerchr17:75606707..75644485hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3660n152
Supporting Variantsnssv14261233, nssv14261234, nssv14261235
SamplesHG00512, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233909
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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