A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271705



Internal ID22282006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128946959..128959703hg38UCSC Ensembl
Outerchr3:128665802..128678546hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3812745
hg1912745
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198643
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271705
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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