A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441919



Internal ID22108101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104385577..104385577hg38UCSC Ensembl
chr12:104779355..104779355hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768237
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441919
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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