A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449218



Internal ID22115395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54726787..54726787hg38UCSC Ensembl
chr8:55639347..55639347hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766830
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449218
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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