A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562154



Internal ID22430914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109794608..109794608hg38UCSC Ensembl
chr2:110552185..110552185hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294893, nssv14294891, nssv14294890, nssv14294892
SamplesNA19239, HG00731, NA19240, HG00733
Known GenesRGPD5, RGPD6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562154
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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