A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403897



Internal ID22461767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53353166..53411584hg38UCSC Ensembl
chr20:51969705..52028122hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3858419
hg1958418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958502
Supporting Variants
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403897
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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