A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218482



Internal ID22363806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29932833..29941154hg38UCSC Ensembl
chr17:28259851..28268172hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388322
hg198322
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14378331, nssv14373434, nssv14388579, nssv14374156, nssv14373376, nssv14390861, nssv14374533, nssv14379016, nssv14375296
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEFCAB5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218482
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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