A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267406



Internal ID22224635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231808727..231853086hg38UCSC Ensembl
Outerchr2:232673437..232717796hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3824618
hg1924618
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220592
Supporting Variants
SamplesHG00733
Known GenesCOPS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267406
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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