A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480716



Internal ID258216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37423745..37424780hg38UCSC Ensembl
chr9:37423742..37424777hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17024754
Samples
Known GenesGRHPR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480716
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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