A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452682



Internal ID230828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202152631..202152772hg38UCSC Ensembl
chr1:202121759..202121900hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895176
Samples
Known GenesPTPN7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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