A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264390



Internal ID22202940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:122680155..122753049hg38UCSC Ensembl
Outerchr2:123437731..123510625hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3872895
hg1972895
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204057
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264390
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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