A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193566



Internal ID22343999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48904706..48906982hg38UCSC Ensembl
chr4:48906723..48908999hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382277
hg192277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313957, nssv14313955, nssv14313956, nssv14313958, nssv14313954, nssv14313952, nssv14313953, nssv14313959, nssv14313951
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesOCIAD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193566
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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