A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273928



Internal ID22314271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:146252690..146289947hg38UCSC Ensembl
Outerchr4:147173842..147211099hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg382197
hg192197
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215061
Supporting Variants
SamplesNA19240
Known GenesSLC10A7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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