A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196030



Internal ID22346116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111502073..111502164hg38UCSC Ensembl
chr1:112044695..112044786hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv375n152
Supporting Variantsnssv14282711, nssv14282713, nssv14282712
SamplesHG00512, HG00513, HG00514
Known GenesADORA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196030
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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