A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217166



Internal ID22362911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:74176014..74177663hg38UCSC Ensembl
chr10:75935772..75937421hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353273, nssv14353280, nssv14353276, nssv14353278, nssv14353275, nssv14353277, nssv14353274, nssv14353272, nssv14353279
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217166
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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