A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749597



Internal ID20525629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9953351..9953403hg38UCSC Ensembl
chr12:10105950..10106002hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259094
Samples
Known GenesCLEC12A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749597
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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