A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400319



Internal ID22458189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99776227..99808014hg38UCSC Ensembl
chr2:100392689..100424476hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3831788
hg1931788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870062
Supporting Variants
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400319
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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