A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433061



Internal ID21395063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226651300..226683299hg38UCSC Ensembl
chr1:226839001..226871000hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3832000
hg1932000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15748015
SamplesSMI041
Known GenesITPKB, ITPKB-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433061
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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