A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447919



Internal ID226209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176299374..176342134hg38UCSC Ensembl
chr2:177164102..177206862hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3842761
hg1942761
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922556
Samples
Known GenesMTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447919
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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