A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247540



Internal ID22376746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16353737..16386888hg38UCSC Ensembl
Outerchr17:16257051..16290202hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382807
hg192807
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261045
SamplesNA19238
Known GenesUBB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247540
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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