A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201272



Internal ID22350606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11964251..11970000hg38UCSC Ensembl
chr1:12024308..12030057hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385750
hg195750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv108n152
Supporting Variantsnssv14330859, nssv14330858, nssv14330861, nssv14330854, nssv14330856, nssv14330860, nssv14330857, nssv14330855, nssv14330862
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPLOD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201272
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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