A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265892



Internal ID22146173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105004045..105016443hg38UCSC Ensembl
Outerchr2:105620503..105632901hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382084
hg192084
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214846
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265892
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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