A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552123



Internal ID325525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166997813..166997813hg38UCSC Ensembl
chr6:167411301..167411301hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381454
hg191454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991246
Samples
Known GenesMIR3939
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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