A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408178



Internal ID187508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62261269..62261320hg38UCSC Ensembl
chr3:62246944..62246995hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934724
Samples
Known GenesPTPRG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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