A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260746



Internal ID22201862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:793227..957730hg38UCSC Ensembl
Outerchr16:843227..1007730hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812218
hg1912218
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246398
Supporting Variants
SamplesHG00732
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260746
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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