A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216935



Internal ID22362765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:73258512..73272426hg38UCSC Ensembl
Outerchr4:74124229..74138143hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383622
hg193622
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6687n152
Supporting Variantsnssv14274126, nssv14274123, nssv14274128, nssv14274124, nssv14274125, nssv14274131, nssv14274129, nssv14274130, nssv14274127
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesANKRD17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216935
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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