A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264292



Internal ID22223507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134204720..134220196hg38UCSC Ensembl
Outerchr2:134962291..134977767hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3815477
hg1915477
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205665
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264292
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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