A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451973



Internal ID230136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215966122..215966233hg38UCSC Ensembl
chr2:216830845..216830956hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924603
Samples
Known GenesMREG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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