A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518598



Internal ID21842957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201456387..201468015hg38UCSC Ensembl
chr1:201425515..201437143hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3811629
hg1911629
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5982261
Supporting Variants
Samples
Known GenesPHLDA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518598
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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