A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272505



Internal ID22191437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:80528488..80555746hg38UCSC Ensembl
Outerchr3:80577638..80604896hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg385968
hg195968
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218144
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272505
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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