A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470408



Internal ID248168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3136286..3141552hg38UCSC Ensembl
chr7:3175920..3181186hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg385267
hg195267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991500
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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