A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438885



Internal ID217435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25445108..25449934hg38UCSC Ensembl
chr2:25667977..25672803hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384827
hg194827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910986
Samples
Known GenesDTNB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438885
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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