A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474941



Internal ID252589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50155793..50155875hg38UCSC Ensembl
chr7:50195389..50195471hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995661
Samples
Known GenesC7orf72
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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