A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487946



Internal ID265267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:90627360..90627484hg38UCSC Ensembl
chr9:93389642..93389766hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17024011
Samples
Known GenesDIRAS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487946
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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