A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410589



Internal ID189904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77539152..77539158hg38UCSC Ensembl
chr7:77168469..77168475hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001159
Samples
Known GenesPTPN12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410589
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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