A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449217



Internal ID22115394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54594299..54594299hg38UCSC Ensembl
chr8:55506859..55506859hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768136
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449217
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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