A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396751



Internal ID22454621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34044011..34048119hg38UCSC Ensembl
chr20:32631817..32635925hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg384109
hg194109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5954434
Supporting Variants
Samples
Known GenesRALY
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396751
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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