A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569295



Internal ID21517651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191130357..191133928hg38UCSC Ensembl
chr2:191995083..191998654hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383572
hg193572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110956
SamplesHG03486
Known GenesSTAT4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569295
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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