A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351862



Internal ID22577531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151046518..151046604hg38UCSC Ensembl
chr1:151018994..151019080hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881329
Supporting Variants
Samples
Known GenesBNIPL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351862
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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