A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290624



Internal ID22272030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68686501..68688669hg38UCSC Ensembl
chr2:68913633..68915801hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382169
hg192169
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208623
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290624
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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