A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624317



Internal ID21572622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8897227..8897227hg38UCSC Ensembl
chr2:9037357..9037357hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113829
SamplesHG03065
Known GenesMBOAT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624317
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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