A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209360



Internal ID22357453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184377451..184390350hg38UCSC Ensembl
chr3:184095239..184108138hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3812900
hg1912900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310210, nssv14310206, nssv14310204, nssv14310209, nssv14310212, nssv14310207, nssv14310205, nssv14310208, nssv14310211
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCHRD, THPO
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209360
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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