A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207708



Internal ID22356055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53951596..53954172hg38UCSC Ensembl
chr1:54417269..54419845hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364570, nssv14364571, nssv14364574, nssv14364578, nssv14364572, nssv14364576, nssv14364573, nssv14364577, nssv14364575
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLRRC42
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207708
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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