A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402135



Internal ID22460005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56404144..56434633hg38UCSC Ensembl
chr2:56631279..56661768hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3830490
hg1930490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887472
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402135
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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