A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264546



Internal ID22260824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:13035164..13051222hg38UCSC Ensembl
Outerchr2:13175289..13191347hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383509
hg193509
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219465
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264546
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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