A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449482



Internal ID22115659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142596206..142596206hg38UCSC Ensembl
chr5:141975771..141975771hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762187
Samples
Known GenesFGF1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449482
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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