A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742508



Internal ID20518492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120886185..120886241hg38UCSC Ensembl
chr2:121643761..121643817hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277081
Samples
Known GenesGLI2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742508
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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