A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233046



Internal ID22372652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:26712155..26718961hg38UCSC Ensembl
Outerchr15:26957302..26964108hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259122, nssv14259121
SamplesHG00732, HG00733
Known GenesGABRB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233046
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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