A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273552



Internal ID22264439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48285952..48291468hg38UCSC Ensembl
Outerchr4:48287969..48293485hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382576
hg192576
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223796
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273552
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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