A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274422



Internal ID22187462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119000240..119030356hg38UCSC Ensembl
Outerchr1:119542863..119572979hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213788
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274422
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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