A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238669



Internal ID22374224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:24514565..24542873hg38UCSC Ensembl
Outerchr20:24495201..24523509hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266398, nssv14266400, nssv14266397, nssv14266394, nssv14266396, nssv14266399, nssv14266393, nssv14266395
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesSYNDIG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238669
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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