A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263845



Internal ID22257478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207255924..207285110hg38UCSC Ensembl
Outerchr2:208120648..208149834hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3829187
hg1929187
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206407
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263845
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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