A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963104



Internal ID22738039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111147347..111147347hg38UCSC Ensembl
chr2:111904924..111904924hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394849
Samples
Known GenesBCL2L11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963104
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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