A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13681703



Internal ID21203561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116841754..116841807hg38UCSC Ensembl
chr12:117279559..117279612hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791480
Supporting Variants
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13681703
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.84375


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