A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239107



Internal ID22374331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89585383..89687427hg38UCSC Ensembl
Outerchr16:89651791..89753835hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg385692
hg195692
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260905, nssv14260908, nssv14260906, nssv14260910, nssv14260907, nssv14260909
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known GenesCDK10, CHMP1A, CPNE7, DPEP1, SPATA33
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239107
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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