A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053624



Internal ID103595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118656568..118712384hg38UCSC Ensembl
chr11:118527278..118583093hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3855817
hg1955816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499261
Supporting Variants
Samples
Known GenesPHLDB1, TREH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053624
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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