A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448209



Internal ID22114387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133539653..133539653hg38UCSC Ensembl
chr9:136404775..136404775hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757465
Samples
Known GenesADAMTSL2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448209
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer