A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446782



Internal ID22112959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:100748680..100748680hg38UCSC Ensembl
chr11:100619411..100619411hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757198
Samples
Known GenesARHGAP42
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446782
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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