A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764978



Internal ID20540838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175260548..175260548hg38UCSC Ensembl
chr2:176125276..176125276hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266481
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764978
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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