A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243078



Internal ID22375465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40176335..40192379hg38UCSC Ensembl
Outerchr21:41548262..41564306hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267081, nssv14267082, nssv14267084, nssv14267083
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesDSCAM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243078
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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