A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528312



Internal ID22397699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69626119..69626236hg38UCSC Ensembl
chr8:70538354..70538471hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342435, nssv14343053, nssv14342437, nssv14342432, nssv14342436, nssv14342434, nssv14342433, nssv14343055, nssv14343054
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSULF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528312
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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