A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452875



Internal ID231018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228053759..228060437hg38UCSC Ensembl
chr2:228918475..228925153hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg386679
hg196679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925719
Samples
Known GenesSPHKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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