A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433702



Internal ID21395704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227908285..227917284hg38UCSC Ensembl
chr2:228773001..228782000hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15747245
SamplesMDQ010
Known GenesDAW1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433702
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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