A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507428



Internal ID284147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112449122..112449173hg38UCSC Ensembl
chr12:112886926..112886977hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684557
Samples
Known GenesPTPN11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507428
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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