A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242873



Internal ID22375405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112330365..112350571hg38UCSC Ensembl
Outerchr13:112984679..113004885hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258284, nssv14258283
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242873
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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