A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463439



Internal ID241343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131555399..131557693hg38UCSC Ensembl
chr6:131876539..131878833hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382295
hg192295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969146
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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