A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449133



Internal ID22115310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51428964..51428964hg38UCSC Ensembl
chr8:52341524..52341524hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762690
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449133
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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