A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267118



Internal ID22121444
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247129
Supporting Variants
SamplesHG00512
Known GenesTRPM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267118
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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