A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273932



Internal ID22279010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:173089321..173116944hg38UCSC Ensembl
Outerchr4:174010472..174038095hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg383166
hg193166
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222640
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273932
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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