A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272071



Internal ID22189456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:56754229..56770081hg38UCSC Ensembl
Outerchr3:56788257..56804109hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382622
hg192622
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210778
Supporting Variants
SamplesHG00731
Known GenesARHGEF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272071
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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