A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448206



Internal ID22114384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132519151..132519151hg38UCSC Ensembl
chr9:135394538..135394538hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761188
Samples
Known GenesC9orf171
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448206
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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