A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497750



Internal ID274774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30731392..30770605hg38UCSC Ensembl
chr11:30752939..30792152hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg3839214
hg1939214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044554
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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