A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875177



Internal ID22650133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113815742..113821384hg38UCSC Ensembl
chr1:114358364..114364006hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg385643
hg195643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350667
Samples
Known GenesPTPN22
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875177
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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