A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4741216



Internal ID20517193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230510471..230510526hg38UCSC Ensembl
chr2:231375186..231375241hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295923
Samples
Known GenesSP100
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4741216
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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