A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423208



Internal ID22481078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:164969204..164988390hg38UCSC Ensembl
chr5:164396210..164415396hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3819187
hg1919187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892325
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423208
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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