A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266972



Internal ID22304251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63087507..63117261hg38UCSC Ensembl
Outerchr20:61718859..61748613hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238637
Supporting Variants
SamplesNA19240
Known GenesHAR1A, HAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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