A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264085



Internal ID22261033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:59422183..59452308hg38UCSC Ensembl
Outerchr2:59649318..59679443hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3830126
hg1930126
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194381
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264085
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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