A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285880



Internal ID22157356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151157515..151159382hg38UCSC Ensembl
chr1:151129991..151131858hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381868
hg191868
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196240
Supporting Variants
SamplesHG00514
Known GenesTNFAIP8L2, TNFAIP8L2-SCNM1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285880
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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