A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352981



Internal ID21010534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102127822..102717507hg38UCSC Ensembl
chr2:102744282..103333966hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38589686
hg19589685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4072n223
Supporting Variantsnssv18205779
Samples
Known GenesIL18R1, IL18RAP, IL1R1, IL1RL1, IL1RL2, MFSD9, MIR4772, SLC9A2, SLC9A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352981
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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