A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425222



Internal ID22483092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168665661..168665715hg38UCSC Ensembl
chr5:168092666..168092720hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892646
Supporting Variants
Samples
Known GenesSLIT3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425222
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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