A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578221



Internal ID21526685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4108675..4108962hg38UCSC Ensembl
chr2:4156266..4156553hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114178
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578221
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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