A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237155



Internal ID22373807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88318402..88414743hg38UCSC Ensembl
Outerchr16:88352008..88481151hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382282
hg192282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260843, nssv14260844
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237155
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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