A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259352



Internal ID22302132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67710595..67718761hg38UCSC Ensembl
Outerchr16:67744498..67752664hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387757
hg197757
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249358
Supporting Variants
SamplesNA19240
Known GenesGFOD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259352
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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