A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195304



Internal ID22345502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46240200..46242944hg38UCSC Ensembl
chr1:46705872..46708616hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382745
hg192745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv205n152
Supporting Variantsnssv14364109, nssv14364108, nssv14364107
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195304
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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