A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456691



Internal ID234752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115596748..115603718hg38UCSC Ensembl
chr5:114932445..114939415hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg386971
hg196971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972961
Samples
Known GenesTICAM2, TMED7-TICAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456691
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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