A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230443



Internal ID22371932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36387392..36454803hg38UCSC Ensembl
Outerchr17:34755962..34815071hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38648822
hg19648822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3539n152
Supporting Variantsnssv14261144
SamplesNA19239
Known GenesTBC1D3G, TBC1D3H
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230443
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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