A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196563



Internal ID22346549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69191558..69191794hg38UCSC Ensembl
chr4:70057276..70057512hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6675n152
Supporting Variantsnssv14313459, nssv14313461, nssv14313460, nssv14313463, nssv14313458, nssv14313462
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196563
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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