A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17624100



Internal ID21816147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53454284..53498279hg38UCSC Ensembl
chr20:52070823..52114818hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3843996
hg1943996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6052579
Supporting Variants
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17624100
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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