A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17529575



Internal ID21853932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228648876..228648876hg38UCSC Ensembl
chr1:228784623..228784623hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6058491
Supporting Variants
Samples
Known GenesDUSP5P1, RHOU
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17529575
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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