A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265471



Internal ID22120830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36090059..36163507hg38UCSC Ensembl
Outerchr2:36317202..36390650hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3873449
hg1973449
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205571
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265471
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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