A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887896



Internal ID22662894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67002119..67002254hg38UCSC Ensembl
chr5:66297947..66298082hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427665
Samples
Known GenesMAST4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887896
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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