A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471481



Internal ID249216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77425611..77430214hg38UCSC Ensembl
chr6:78135328..78139931hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg384604
hg194604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983868
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471481
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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