A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276304



Internal ID22190812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178995837..179005113hg38UCSC Ensembl
Outerchr5:178422838..178432114hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381991
hg191991
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220448
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276304
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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