A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16261268



Internal ID20470486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232897861..232897861hg38UCSC Ensembl
chr2:233762571..233762571hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4762167
Supporting Variants
Samples
Known GenesNGEF
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16261268
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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