A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558086



Internal ID22426889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224945608..225060632hg38UCSC Ensembl
chr1:225133310..225248334hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38115025
hg19115025
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310611, nssv14310607, nssv14310610, nssv14310614, nssv14310608, nssv14310609, nssv14310613, nssv14310615, nssv14310612
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDNAH14
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558086
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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