A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263012



Internal ID22120086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111229462..111267532hg38UCSC Ensembl
Outerchr1:111772084..111810154hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381083
hg191083
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229552
Supporting Variants
SamplesHG00512
Known GenesCHI3L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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