A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276898



Internal ID22191902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149642947..149658919hg38UCSC Ensembl
Outerchr5:149022510..149038482hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226466
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276898
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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