A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399991



Internal ID179375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127915754..127915805hg38UCSC Ensembl
chr10:129714018..129714069hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041219
Samples
Known GenesPTPRE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399991
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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