A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486741



Internal ID264098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130876725..130992635hg38UCSC Ensembl
chr9:133752112..133868022hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg38115911
hg19115911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028906
Samples
Known GenesABL1, FIBCD1, QRFP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486741
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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