A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436023



Internal ID214650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224797258..224797509hg38UCSC Ensembl
chr2:225661975..225662226hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925627
Samples
Known GenesDOCK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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