A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398803



Internal ID178198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86620114..86620165hg38UCSC Ensembl
chr2:86847237..86847288hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915213
Samples
Known GenesRNF103, RNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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