A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264647



Internal ID22257731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105189434..105212443hg38UCSC Ensembl
Outerchr2:105805891..105828900hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3823010
hg1923010
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197998
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264647
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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