A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107231



Internal ID21426308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102450206..102450206hg38UCSC Ensembl
chr2:103066666..103066666hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615842
Supporting Variants
SamplesHG00731
Known GenesIL18RAP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107231
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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