A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194992



Internal ID22345236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41945973..41946093hg38UCSC Ensembl
chr4:41947990..41948110hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313064, nssv14313065, nssv14313066, nssv14313063
SamplesNA19238, NA19239, NA19240, HG00513
Known GenesTMEM33
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194992
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer