A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561661



Internal ID22430429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38485067..38485067hg38UCSC Ensembl
chr1:38950739..38950739hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361869, nssv14361875, nssv14361873, nssv14361874, nssv14361870, nssv14361871, nssv14361872
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561661
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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