A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473079



Internal ID250776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56264848..56264942hg38UCSC Ensembl
chr5:55560675..55560769hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965518
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473079
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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