A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399194



Internal ID178585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113694046..113694097hg38UCSC Ensembl
chr3:113412893..113412944hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938580
Samples
Known GenesKIAA2018
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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