A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553260



Internal ID326525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:23704151..23704187hg38UCSC Ensembl
chr9:23704149..23704185hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17020097
Samples
Known GenesELAVL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553260
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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