A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273514



Internal ID22152837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38408418..38418572hg38UCSC Ensembl
Outerchr4:38410039..38420193hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg386134
hg196134
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225342
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273514
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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