A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606732



Internal ID21555037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231004911..231004911hg38UCSC Ensembl
chr2:231869626..231869626hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111786
SamplesNA19983
Known GenesSPATA3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606732
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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