A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274643



Internal ID22121543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179581989..179610571hg38UCSC Ensembl
Outerchr5:179008990..179037572hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381747
hg191747
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222787
Supporting Variants
SamplesHG00512
Known GenesRUFY1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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