A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463969



Internal ID241858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137868839..137868956hg38UCSC Ensembl
chr5:137204528..137204645hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974570
Samples
Known GenesMYOT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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