A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253091



Internal ID22246030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:115315323..115333242hg38UCSC Ensembl
Outerchr9:118077602..118095521hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241805
Supporting Variants
SamplesHG00733
Known GenesDEC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253091
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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