A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17033753



Internal ID90198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23441498..23445929hg38UCSC Ensembl
chr10:23730427..23734858hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg384432
hg194432
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482966
Supporting Variants
Samples
Known GenesOTUD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17033753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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