A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425790



Internal ID22483660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111519206..111543468hg38UCSC Ensembl
chr5:110854904..110879166hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3824263
hg1924263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894230
Supporting Variants
Samples
Known GenesSTARD4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425790
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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