A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578561



Internal ID21527031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200683432..200683557hg38UCSC Ensembl
chr2:201548155..201548280hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111371
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578561
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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