A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200532



Internal ID22349965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33307851..33314400hg38UCSC Ensembl
chr1:33773452..33780001hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg386550
hg196550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14359870, nssv14359872, nssv14359868, nssv14359875, nssv14359874, nssv14359873, nssv14359871, nssv14359869, nssv14359876
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesA3GALT2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200532
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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