A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354746



Internal ID22580415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151642864..151652634hg38UCSC Ensembl
chr1:151615340..151625110hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg389771
hg199771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882860
Supporting Variants
Samples
Known GenesSNX27
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354746
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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