A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481765



Internal ID259234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50474025..50474490hg38UCSC Ensembl
chr10:52233785..52234250hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034702
Samples
Known GenesSGMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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