A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608255



Internal ID21556560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134459463..134459463hg38UCSC Ensembl
chr2:135217034..135217034hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108969
SamplesHG00732
Known GenesTMEM163
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608255
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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