A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190653



Internal ID22341485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2790901..2795000hg38UCSC Ensembl
chr4:2792628..2796727hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309878, nssv14309875, nssv14309874, nssv14309876, nssv14309872, nssv14309871, nssv14309877, nssv14309873, nssv14309870
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSH3BP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190653
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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