A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191759



Internal ID22342424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150727954..150735710hg38UCSC Ensembl
chr1:150700430..150708186hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387757
hg197757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288977, nssv14288979, nssv14288975, nssv14288980, nssv14288983, nssv14288982, nssv14288976, nssv14288981, nssv14288978
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCTSS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191759
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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