A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687642



Internal ID111308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49513403..49513454hg38UCSC Ensembl
chr13:50087539..50087590hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507450
Supporting Variants
Samples
Known GenesPHF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687642
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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