A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246090



Internal ID22376323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89570254..89635343hg38UCSC Ensembl
Outerchr16:89636662..89701751hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260912, nssv14260911
SamplesNA19238, NA19239
Known GenesCPNE7, DPEP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246090
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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