A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245081



Internal ID22376045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6553003..6563736hg38UCSC Ensembl
Outerchr17:6456323..6467056hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261019, nssv14261021, nssv14261022, nssv14261020
SamplesNA19238, NA19239, HG00733, HG00513
Known GenesPITPNM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245081
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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