A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195100



Internal ID22345324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197531383..197534139hg38UCSC Ensembl
chr1:197500513..197503269hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516n152
Supporting Variantsnssv14301894, nssv14301900, nssv14301896, nssv14301897, nssv14301901, nssv14301898, nssv14301899, nssv14301895, nssv14301902
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDENND1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195100
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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