A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194463



Internal ID22344772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45914771..45915136hg38UCSC Ensembl
chr6:45882508..45882873hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14328261, nssv14328265, nssv14328263, nssv14328264, nssv14328260, nssv14328262
SamplesHG00512, NA19238, NA19239, HG00731, HG00733, HG00513
Known GenesCLIC5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194463
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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