A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234212



Internal ID22372964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:640851..649363hg38UCSC Ensembl
Outerchr20:621495..630007hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266882, nssv14266883, nssv14266878, nssv14266884, nssv14266880, nssv14266879, nssv14266881
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesSRXN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234212
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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