A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455958



Internal ID234026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46483113..46483166hg38UCSC Ensembl
chr6:46450850..46450903hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984794
Samples
Known GenesRCAN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455958
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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