A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561809



Internal ID22430577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244263411..244263411hg38UCSC Ensembl
chr1:244426713..244426713hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14319134, nssv14319135, nssv14319136
SamplesHG00512, HG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561809
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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