A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215500



Internal ID22361812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23741043..23787170hg38UCSC Ensembl
Outerchr16:23752364..23798491hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3846128
hg1946128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259491
SamplesHG00732
Known GenesCHP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215500
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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