A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504147



Internal ID280955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128709841..128709918hg38UCSC Ensembl
chr10:130508105..130508182hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040059
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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