A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240647



Internal ID22374755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136913530..136934078hg38UCSC Ensembl
Outerchr9:139807982..139828530hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253102
SamplesHG00512
Known GenesTRAF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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