A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446350



Internal ID22112529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70371326..70371326hg38UCSC Ensembl
chr11:70217432..70217432hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg385467
hg195467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760364
Samples
Known GenesPPFIA1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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