A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364576



Internal ID22253939
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 Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207708
Supporting Variants
SamplesNA19238
Known GenesLRRC42
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364576
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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