A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743078



Internal ID20519064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29119986..29121384hg38UCSC Ensembl
chr22:29515974..29517372hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277957
Samples
Known GenesKREMEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743078
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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