A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259067



Internal ID22145175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:70545825..70561924hg38UCSC Ensembl
Outerchr15:70838164..70854263hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381875
hg191875
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242097
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259067
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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