A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274041



Internal ID22231535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53904649..53925942hg38UCSC Ensembl
Outerchr4:54770816..54792109hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225903
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274041
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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