A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754175



Internal ID20530035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222513714..222513714hg38UCSC Ensembl
chr2:223378433..223378433hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258970
Samples
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754175
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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