A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265290



Internal ID22209234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:13187966..13276929hg38UCSC Ensembl
Outerchr2:13328091..13417054hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3888964
hg1988964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202225
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265290
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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