A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483146



Internal ID260589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71389418..71404033hg38UCSC Ensembl
chr7:70854404..70869019hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3814616
hg1914616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998252
Samples
Known GenesWBSCR17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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