A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216578



Internal ID22362529
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274278
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216578
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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