A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512699



Internal ID289248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18746486..18747398hg38UCSC Ensembl
chr11:18768033..18768945hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38913
hg19913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044678
Samples
Known GenesPTPN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512699
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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