A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265736



Internal ID22134962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:20690992..20692245hg38UCSC Ensembl
Outerchr2:20890752..20892005hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227048
Supporting Variants
SamplesHG00513
Known GenesC2orf43
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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