A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437321



Internal ID215912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108630530..108630612hg38UCSC Ensembl
chr2:109246986..109247068hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916498
Samples
Known GenesLIMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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