A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420411



Internal ID22478281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56264848..56264941hg38UCSC Ensembl
chr5:55560675..55560768hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901566
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420411
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004


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