A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420740



Internal ID199834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32794936..32796269hg38UCSC Ensembl
chr1:33260537..33261870hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381334
hg191334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903659
Samples
Known GenesYARS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420740
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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