A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266485



Internal ID22277707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61139920..61154155hg38UCSC Ensembl
Outerchr20:59714976..59729211hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381263
hg191263
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235621
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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