A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192407



Internal ID22343000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181742912..181743007hg38UCSC Ensembl
chr3:181460700..181460795hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6277n152
Supporting Variantsnssv14310129, nssv14310132, nssv14310131, nssv14310134, nssv14310133, nssv14310127, nssv14310126, nssv14310128, nssv14310130
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192407
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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