A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445482



Internal ID22111661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53525453..53525453hg38UCSC Ensembl
chr1:53991126..53991126hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763583
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445482
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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