A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561405



Internal ID22430173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115923645..115923645hg38UCSC Ensembl
chr1:116466266..116466266hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287170, nssv14287171, nssv14287169
SamplesHG00732, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561405
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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