A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192939



Internal ID22343453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158998151..158999800hg38UCSC Ensembl
chr6:159419183..159420832hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14330455, nssv14330460, nssv14330453, nssv14330458, nssv14330456, nssv14330461, nssv14330454, nssv14330457, nssv14330459
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRSPH3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192939
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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