A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17080876



Internal ID21485340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81244407..81244407hg38UCSC Ensembl
chr16:81278012..81278012hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648026
Supporting Variants
SamplesNA12878
Known GenesBCMO1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17080876
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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