A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264722



Internal ID22186129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:13856013..13926118hg38UCSC Ensembl
Outerchr2:13996138..14066243hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3870106
hg1970106
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205824
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264722
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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