A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460333



Internal ID238322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33634617..33634698hg38UCSC Ensembl
chr6:33602394..33602475hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983547
Samples
Known GenesITPR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460333
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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