A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217641



Internal ID22363233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:61253..82824hg38UCSC Ensembl
chr19:61253..82824hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3821572
hg1921572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285694, nssv14285696, nssv14285695, nssv14285699, nssv14285700, nssv14285488, nssv14285697, nssv14285487, nssv14285698
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217641
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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