A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214259



Internal ID22360959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96678155..96678541hg38UCSC Ensembl
chr10:98437912..98438298hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14356369, nssv14356368, nssv14356371, nssv14356370, nssv14356367, nssv14356366
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known GenesPIK3AP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214259
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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