A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267698



Internal ID22135578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37702502..37715316hg38UCSC Ensembl
Outerchr21:39074804..39087619hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249564
Supporting Variants
SamplesHG00513
Known GenesKCNJ6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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