A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444612



Internal ID22110792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234308577..234308577hg38UCSC Ensembl
chr1:234444323..234444323hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760317
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444612
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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