A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482664



Internal ID260115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:41399405..41402349hg38UCSC Ensembl
chr7:41439003..41441947hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382945
hg192945
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995461
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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