A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504638



Internal ID281437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132280795..132294755hg38UCSC Ensembl
chr11:132150689..132164649hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3813961
hg1913961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053545
Samples
Known GenesNTM, NTM-IT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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