A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265449



Internal ID22330038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220529280..220562843hg38UCSC Ensembl
Outerchr2:221394001..221427564hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3833564
hg1933564
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192173
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265449
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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