A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407000



Internal ID22464870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46751611..46752174hg38UCSC Ensembl
chr2:46978750..46979313hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872392
Supporting Variants
Samples
Known GenesSOCS5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407000
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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