A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273078



Internal ID22198058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166570301..166597521hg38UCSC Ensembl
Outerchr4:167491453..167518672hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382582
hg192582
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225225
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273078
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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