A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264398



Internal ID22208064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:162744806..162842639hg38UCSC Ensembl
Outerchr2:163601316..163699149hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3897834
hg1997834
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205278
Supporting Variants
SamplesHG00732
Known GenesKCNH7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264398
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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