A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231709



Internal ID22372310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89832008..89855982hg38UCSC Ensembl
Outerchr16:89898416..89922390hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382695
hg192695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3357n152
Supporting Variantsnssv14260913, nssv14260914, nssv14260915
SamplesHG00512, NA19238, NA19239
Known GenesSPIRE2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231709
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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