A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211260



Internal ID22358875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:73258512..73268514hg38UCSC Ensembl
Outerchr4:74124229..74134231hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6687n152
Supporting Variantsnssv14274122
SamplesNA19238
Known GenesANKRD17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211260
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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