A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259202



Internal ID22275042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21209296..21223018hg38UCSC Ensembl
Outerchr16:21220617..21234339hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384385
hg194385
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240150
Supporting Variants
SamplesNA19239
Known GenesZP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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