A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248607



Internal ID22377034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45796360..45801495hg38UCSC Ensembl
Outerchr21:47216274..47221409hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383299
hg193299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267155, nssv14267157, nssv14267156, nssv14267152, nssv14267158, nssv14267153, nssv14267151, nssv14267154, nssv14267150
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248607
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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