A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382719



Internal ID22440589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45779051..45786613hg38UCSC Ensembl
chr13:46353186..46360748hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg387563
hg197563
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928959
Supporting Variants
Samples
Known GenesSIAH3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382719
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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