A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247129



Internal ID22376629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44394755..44424397hg38UCSC Ensembl
Outerchr21:45814638..45844280hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387973
hg197973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267120, nssv14267125, nssv14267118, nssv14267126, nssv14267121, nssv14267122, nssv14267123, nssv14267124, nssv14267119
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTRPM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247129
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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