A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649553



Internal ID21597858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23875506..23875506hg38UCSC Ensembl
chr16:23886827..23886827hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087771
SamplesHG00731
Known GenesPRKCB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649553
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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