A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473047



Internal ID250746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58652917..58659081hg38UCSC Ensembl
chr5:57948744..57954908hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386165
hg196165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966084
Samples
Known GenesRAB3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473047
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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