A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349211



Internal ID21006764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102073096..102703088hg38UCSC Ensembl
chr2:102689556..103319547hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38629993
hg19629992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4072n223
Supporting Variantsnssv18205777
Samples
Known GenesIL18R1, IL18RAP, IL1R1, IL1RL1, IL1RL2, MIR4772, SLC9A2, SLC9A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349211
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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