A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231650



Internal ID22372291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28446364..28460761hg38UCSC Ensembl
Outerchr17:26773382..26787779hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261135, nssv14261140, nssv14261139, nssv14261138, nssv14261137, nssv14261141, nssv14261136
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231650
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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