A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274278



Internal ID22187244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:151808543..151810284hg38UCSC Ensembl
Outerchr4:152729695..152731436hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg385988
hg195988
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216578
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274278
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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