A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274183



Internal ID22141037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:98739867..98774811hg38UCSC Ensembl
Outerchr4:99661018..99695962hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381394
hg191394
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211703
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274183
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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