A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493133



Internal ID270325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34574250..34574324hg38UCSC Ensembl
chr9:34574248..34574322hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17021491
Samples
Known GenesCNTFR, CNTFR-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493133
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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