A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271391



Internal ID22253225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:39529872..39587174hg38UCSC Ensembl
Outerchr3:39571363..39628665hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382054
hg192054
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222177
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271391
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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