A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260084



Internal ID22222189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1851576..1889256hg38UCSC Ensembl
Outerchr16:1901577..1939257hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382483
hg192483
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237147
Supporting Variants
SamplesHG00733
Known GenesLINC00254, MEIOB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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