A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271692



Internal ID22277449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:115493530..115560594hg38UCSC Ensembl
Outerchr3:115212377..115279441hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3867065
hg1967065
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207504
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271692
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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