A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049513



Internal ID100897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103067239..103336989hg38UCSC Ensembl
chr11:102937968..103207717hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38269751
hg19269750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500877
Supporting Variants
Samples
Known GenesDCUN1D5, DYNC2H1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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