A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422943



Internal ID22480813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122538551..122539236hg38UCSC Ensembl
chr5:121874246..121874931hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906394
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422943
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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