A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201811



Internal ID22351060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1189639..1189988hg38UCSC Ensembl
chr4:1183427..1183776hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311664, nssv14311663
SamplesHG00513, HG00514
Known GenesSPON2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201811
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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