A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273006



Internal ID22262484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:111361472..111388621hg38UCSC Ensembl
Outerchr4:112282628..112309777hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3827150
hg1927150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192672
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273006
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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