A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194547



Internal ID22344852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183870280..183870380hg38UCSC Ensembl
chr1:183839414..183839514hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298119, nssv14298118
SamplesNA19238, NA19239
Known GenesRGL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194547
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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