A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266684



Internal ID22203639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232985532..232998188hg38UCSC Ensembl
Outerchr2:233850242..233862898hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213908
Supporting Variants
SamplesHG00732
Known GenesNGEF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266684
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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