A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264331



Internal ID22260943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161464915..161496606hg38UCSC Ensembl
Outerchr2:162321426..162353117hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3831692
hg1931692
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199427
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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