A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480518



Internal ID258025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:32774487..32781432hg38UCSC Ensembl
chr10:33063415..33070360hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg386946
hg196946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032959
Samples
Known GenesCCDC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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