A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418500



Internal ID197664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169661655..169668444hg38UCSC Ensembl
chr1:169630893..169637682hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386790
hg196790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892139
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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