A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478002



Internal ID255565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50873826..50873908hg38UCSC Ensembl
chr10:52633586..52633668hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034744
Samples
Known GenesA1CF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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