A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448745



Internal ID22114922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21693782..21693782hg38UCSC Ensembl
chr8:21551294..21551294hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766727
Samples
Known GenesGFRA2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448745
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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