A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272081



Internal ID22197888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:16401467..16404622hg38UCSC Ensembl
Outerchr3:16442974..16446129hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38930
hg19930
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213016
Supporting Variants
SamplesHG00732
Known GenesRFTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272081
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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