A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202593



Internal ID22351735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46890051..46900200hg38UCSC Ensembl
chr3:46931541..46941690hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3810150
hg1910150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306936, nssv14306932, nssv14306935, nssv14306931, nssv14306938, nssv14306930, nssv14306934, nssv14306933, nssv14306937
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPTH1R
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202593
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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