A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433675



Internal ID21395677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196154277..196185276hg38UCSC Ensembl
chr2:197019001..197050000hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3831000
hg1931000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15749655
SamplesSMI041
Known GenesSTK17B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433675
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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