A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271990



Internal ID22132505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178733529..178767850hg38UCSC Ensembl
Outerchr3:178451317..178485638hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38894
hg19894
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213905
Supporting Variants
SamplesHG00513
Known GenesKCNMB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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