A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193440



Internal ID22343886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43658245..43658604hg38UCSC Ensembl
chr6:43625982..43626341hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14326516, nssv14326519, nssv14326514, nssv14326517, nssv14326515, nssv14326518, nssv14326520
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513, HG00514
Known GenesRSPH9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193440
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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