A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273966



Internal ID22321379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99506196..99515904hg38UCSC Ensembl
Outerchr4:100427353..100437061hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212208
Supporting Variants
SamplesNA19240
Known GenesC4orf17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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