A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433690



Internal ID21395692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222476282..222478281hg38UCSC Ensembl
chr2:223341001..223343000hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15749355, nssv15753629
SamplesMDQ010, MDQ025
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433690
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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