A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440548



Internal ID22106726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191390411..191390411hg38UCSC Ensembl
chr3:191108200..191108200hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766347
Samples
Known GenesCCDC50
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440548
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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