A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247893



Internal ID22376820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61976030..61982986hg38UCSC Ensembl
Outerchr20:60551086..60558042hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267859, nssv14266909, nssv14266910, nssv14266908, nssv14266911
SamplesNA19238, NA19239, HG00731, HG00732, HG00513
Known GenesTAF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247893
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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