A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557560



Internal ID22426366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114103332..114111739hg38UCSC Ensembl
chr1:114645954..114654361hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388408
hg198408
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285671, nssv14285673, nssv14285667, nssv14285672, nssv14285670, nssv14285668, nssv14285669
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSYT6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557560
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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