A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275227



Internal ID22124975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95206769..95246201hg38UCSC Ensembl
Outerchr5:94542473..94581905hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816532
hg1916532
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227039
Supporting Variants
SamplesHG00512
Known GenesMCTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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