A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562049



Internal ID22430815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51961653..51961653hg38UCSC Ensembl
chr20:50578192..50578192hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299527, nssv14299526, nssv14299528, nssv14299525
SamplesHG00512, NA19239, HG00732, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562049
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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