A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217257



Internal ID22362973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97222110..97223427hg38UCSC Ensembl
chr10:98981867..98983184hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14356388, nssv14356386, nssv14356387, nssv14356391, nssv14356390, nssv14356389, nssv14356383, nssv14356384, nssv14356385
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGAP19, ARHGAP19-SLIT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217257
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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