A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485385



Internal ID262775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136194197..136281246hg38UCSC Ensembl
chr9:139086043..139166997hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3887050
hg1980955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029570
Samples
Known GenesLHX3, QSOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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