A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110099



Internal ID21464650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217752694..217752694hg38UCSC Ensembl
chr2:218617417..218617417hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5604563
Supporting Variants
SamplesHG03065
Known GenesDIRC3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110099
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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