A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471969



Internal ID249690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57237237..57328440hg38UCSC Ensembl
chr6:57102035..57193238hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3891204
hg1991204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983388
Samples
Known GenesPRIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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