A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504850



Internal ID281645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6947731..6949185hg38UCSC Ensembl
chr12:7056894..7058348hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381455
hg191455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055068
Samples
Known GenesPTPN6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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