A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564093



Internal ID22432828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68261430..68261430hg38UCSC Ensembl
chr4:69127148..69127148hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313413, nssv14313417, nssv14313415, nssv14313418, nssv14313414, nssv14313416
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564093
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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