A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562795



Internal ID22431539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204274150..204274150hg38UCSC Ensembl
chr2:205138873..205138873hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296959, nssv14296953, nssv14296954, nssv14296958, nssv14296957, nssv14296956, nssv14296951, nssv14296955, nssv14296952
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562795
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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