A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268704



Internal ID22146577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46263656..46299112hg38UCSC Ensembl
Outerchr21:47683570..47719026hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238937
Supporting Variants
SamplesHG00514
Known GenesMCM3AP, YBEY
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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