A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419226



Internal ID22477096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111081251..111111530hg38UCSC Ensembl
chr5:110416949..110447229hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3830280
hg1930281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891126
Supporting Variants
Samples
Known GenesWDR36
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419226
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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