A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195088



Internal ID22345317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33678401..33691700hg38UCSC Ensembl
chr6:33646178..33659477hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3813300
hg1913300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14324875, nssv14324873, nssv14324876, nssv14324874, nssv14324878, nssv14324871, nssv14324877, nssv14324872, nssv14324870
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesITPR3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195088
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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