A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4732595



Internal ID20508519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116841777..116841858hg38UCSC Ensembl
chr12:117279582..117279663hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295019
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4732595
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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