A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563637



Internal ID22432373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117214474..117214474hg38UCSC Ensembl
chr5:116550170..116550170hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14322460, nssv14322461, nssv14322464, nssv14322462, nssv14322457, nssv14322458, nssv14322463, nssv14322456, nssv14322459
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563637
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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