A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267345



Internal ID22187485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45058256..45090006hg38UCSC Ensembl
Outerchr2:45285395..45317145hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382534
hg192534
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217435
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267345
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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