A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557262



Internal ID330363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222456654..222456705hg38UCSC Ensembl
chr2:223321373..223321424hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923935
Samples
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557262
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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