A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474498



Internal ID252156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124670437..124670524hg38UCSC Ensembl
chr9:127432716..127432803hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028633
Samples
Known GenesMIR181A2HG, NR6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474498
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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