A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271835



Internal ID22281793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48207350..48222127hg38UCSC Ensembl
Outerchr3:48248840..48263617hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214575
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271835
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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