A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197136



Internal ID22347046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2826151..2833950hg38UCSC Ensembl
chr4:2827878..2835677hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309884, nssv14309889, nssv14309882, nssv14309886, nssv14309885, nssv14309881, nssv14309888, nssv14309883, nssv14309887
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)nsv3197136
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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