A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480908



Internal ID258405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93326531..93326601hg38UCSC Ensembl
chr7:92955843..92955913hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735716
Samples
Known GenesCCDC132
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480908
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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