A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274279



Internal ID22187197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168496724..168498320hg38UCSC Ensembl
Outerchr4:169417875..169419471hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg386327
hg196327
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225286
Supporting Variants
SamplesHG00731
Known GenesPALLD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274279
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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