A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966119



Internal ID22741054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106071322..106071322hg38UCSC Ensembl
chr2:106687778..106687778hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407682
Samples
Known GenesC2orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966119
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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