A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264532



Internal ID22134544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10528531..10541529hg38UCSC Ensembl
Outerchr2:10668657..10681655hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227781
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264532
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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