A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053614



Internal ID103587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118502169..118560697hg38UCSC Ensembl
chr11:118372884..118431412hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3858529
hg1958529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502209
Supporting Variants
Samples
Known GenesIFT46, KMT2A, TMEM25, TTC36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053614
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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