A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267521



Internal ID22265050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63941320..63954581hg38UCSC Ensembl
Outerchr20:62572673..62585934hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244271
Supporting Variants
SamplesNA19238
Known GenesMIR1914, MIR647, UCKL1, UCKL1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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