A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446916



Internal ID225234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9088640..9302101hg38UCSC Ensembl
chr2:9228769..9442230hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38213462
hg19213462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909031
Samples
Known GenesASAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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