A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561696



Internal ID22430464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41369871..41369871hg38UCSC Ensembl
chr1:41835543..41835543hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363209, nssv14363207, nssv14363211, nssv14363213, nssv14363205, nssv14363212, nssv14363208, nssv14363210, nssv14363206
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)nsv3561696
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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