A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885050



Internal ID22660034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106069152..106069216hg38UCSC Ensembl
chr2:106685608..106685672hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395778
Samples
Known GenesC2orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885050
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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