A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274058



Internal ID22198210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55725585..55748842hg38UCSC Ensembl
Outerchr4:56591752..56615008hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384141
hg194141
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210412
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274058
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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