A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440010



Internal ID218534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25560518..25560595hg38UCSC Ensembl
chr2:25783387..25783464hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911000
Samples
Known GenesDTNB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440010
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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