A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397561



Internal ID176967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185744284..185744335hg38UCSC Ensembl
chr3:185462072..185462123hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944806
Samples
Known GenesIGF2BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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