A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411343



Internal ID22469213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137868839..137868955hg38UCSC Ensembl
chr5:137204528..137204644hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898795
Supporting Variants
Samples
Known GenesMYOT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411343
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007


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