A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475040



Internal ID252685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149108197..149109265hg38UCSC Ensembl
chr7:148805289..148806357hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004781
Samples
Known GenesZNF425
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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