A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749457



Internal ID20525488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120553036..120553091hg38UCSC Ensembl
chr12:120990839..120990894hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16267230
Samples
Known GenesRNF10
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749457
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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