A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259541



Internal ID22183772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80478329..80504984hg38UCSC Ensembl
Outerchr14:80944672..80971327hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236506
Supporting Variants
SamplesHG00731
Known GenesCEP128
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259541
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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