A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433888



Internal ID212586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70758438..70758489hg38UCSC Ensembl
chr12:71152218..71152269hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688947
Samples
Known GenesPTPRR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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