A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419229



Internal ID22477099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55283841..55284366hg38UCSC Ensembl
chr5:54579669..54580194hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906531
Supporting Variants
Samples
Known GenesDHX29
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419229
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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