A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446863



Internal ID225181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101403000..101531618hg38UCSC Ensembl
chr2:102019462..102148080hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38128619
hg19128619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917039
Samples
Known GenesRFX8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446863
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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