A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413653



Internal ID192943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92644795..92644846hg38UCSC Ensembl
chr9:95407077..95407128hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738497
Samples
Known GenesIPPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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