A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461355



Internal ID239309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150622711..150622801hg38UCSC Ensembl
chr5:150002273..150002363hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974787
Samples
Known GenesSYNPO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461355
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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