A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266576



Internal ID22187081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208132642..208196031hg38UCSC Ensembl
Outerchr2:208997366..209060755hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383715
hg193715
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216064
Supporting Variants
SamplesHG00731
Known GenesC2orf80, CRYGA, CRYGB, LOC100507443
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266576
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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