A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439357



Internal ID217895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198652884..198662554hg38UCSC Ensembl
chr1:198622013..198631683hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg389671
hg199671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893541
Samples
Known GenesPTPRC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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