A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247500



Internal ID22376734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52482514..52529544hg38UCSC Ensembl
Outerchr15:52774711..52821741hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259117, nssv14259116
SamplesHG00731, HG00732
Known GenesMYO5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247500
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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