A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273962



Internal ID22296350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:52195945..52202452hg38UCSC Ensembl
Outerchr4:53062111..53068618hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382168
hg192168
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223568
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273962
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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