A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264865



Internal ID22315709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:28466613..28491477hg38UCSC Ensembl
Outerchr2:28689480..28714344hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3824865
hg1924865
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192144
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264865
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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