A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438638



Internal ID217198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55241146..55241631hg38UCSC Ensembl
chr2:55468282..55468767hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912812
Samples
Known GenesMTIF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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