A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540041



Internal ID314883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:104114598..104114649hg38UCSC Ensembl
chr9:106876879..106876930hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027043
Samples
Known GenesSMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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