A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267475



Internal ID22232693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32302692..32324936hg38UCSC Ensembl
Outerchr20:30890495..30912739hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38958
hg19958
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242662
Supporting Variants
SamplesHG00733
Known GenesKIF3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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