A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550084



Internal ID323680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56660999..56661001hg38UCSC Ensembl
chr6:56525797..56525799hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986030
Samples
Known GenesDST, RNU6-71P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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