A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243639



Internal ID22375629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41466956..41480514hg38UCSC Ensembl
Outerchr21:42838883..42852441hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267701, nssv14267700, nssv14267699
SamplesHG00732, HG00513, HG00514
Known GenesTMPRSS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243639
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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