A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266790



Internal ID22276941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1420504..1451204hg38UCSC Ensembl
Outerchr2:1424276..1454976hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216267
Supporting Variants
SamplesNA19239
Known GenesTPO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266790
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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