A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264956



Internal ID22203121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3025528..3047845hg38UCSC Ensembl
Outerchr2:3029300..3051617hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383537
hg193537
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219067
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264956
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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