A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264674



Internal ID22134606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60692744..60694449hg38UCSC Ensembl
Outerchr2:60919879..60921584hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381706
hg191706
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207136
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264674
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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