A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264372



Internal ID22120532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176397113..176423357hg38UCSC Ensembl
Outerchr2:177261841..177288085hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3826245
hg1926245
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201487
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264372
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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