A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276175



Internal ID22316541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61280110..61290184hg38UCSC Ensembl
Outerchr5:60575937..60586011hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382760
hg192760
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217225
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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