A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272017



Internal ID22233834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183568319..183574157hg38UCSC Ensembl
Outerchr3:183286107..183291945hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224990
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272017
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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