A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397587



Internal ID22455457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102003025..102003628hg38UCSC Ensembl
chr2:102619487..102620090hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38604
hg19604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874341
Supporting Variants
Samples
Known GenesIL1R2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397587
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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