A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265427



Internal ID22323371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6156765..6187431hg38UCSC Ensembl
Outerchr2:6296897..6327563hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3830667
hg1930667
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202576
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265427
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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