A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561456



Internal ID22430224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220971663..220971663hg38UCSC Ensembl
chr1:221145005..221145005hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309238, nssv14309236, nssv14309237
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561456
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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